Category Archives: DNA

When Uber bought self-driving truck developer Otto for $680 million less than a year ago, the ride-sharing company proclaimed in a blog post that it had created a "dream team."

Uber hailed the arrival of Otto founder Anthony Levandowski. "Anthony is one of the world's leading autonomous engineers: his first invention, a self-driving motorcycle called Ghostrider, is now in the Smithsonian," Uber gushed. Levandowski had developed autonomous car technology for Alphabet's (GOOGL) self-driving car unit, now known as Waymo. "Just as important, Anthony is a prolific entrepreneur with a real sense of urgency."

The sense of urgency has only increased, though not in the way Uber expected.

Levandowski is at the center of trade secrets litigation that Waymo brought against Uber, accusing the engineer of stealing 14,000 documents on his way out the door when he left to found Otto in January 2016.

Former trophy hire Levandowski has until the end of the month to provide Alphabet's Waymo with documents that he allegedly downloaded or face termination from Uber, as per a May 15 letter from General Counsel. Judge William Alsup, who is hearing Waymo's suit in the U.S. District Court for the Northern District of California in San Francisco, mandated the return of the files.

While the dispute between Waymo and Uber is dramatic and riveting, it is not unique. Augmented reality company Oculus, which Facebook (FB) acquired for $2 billion in 2014, drew similar accusations from Zenimax. Tesla (TSLA) recently sued a former program manager of its Autopilot advanced driver assistancesystemunitfor breach of contract. Complicating matters in Silicon Valley, California does not recognize non-compete clauses that could block employees in other regions from hopping to a rival with prized intellectual property.

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Silicon Valley DNA vs. NDAs - TheStreet.com

WASHINGTON, Pa. (AP) Alexandra Berumen thought she was European and Mexican. Wrong.

Serena Pierce thought she was Italian and German. Wrong.

Deitrick Stogner thought he was African-American. Partly wrong.

They and two other after-school program participants at LeMoyne Community Center - Kaprice Johnson and Daisean Lacks - submitted to DNA testing to determine their true ethnic makeup. They tested through ancestry.com and africanancestry.com in January, and four youngsters were surprised by the DNA results. One remains puzzled.

"No one is one thing. We're all a hodgepodge of many things," Joyce Ellis, executive director of the center, told a group of about 30 youngsters Thursday. They gathered in a room inside the East Washington center to watch a video related to the quintet's quest to find out - as Ellis put it - "Who do you think you are?"

Videographer Allen Bankz posed that question in January, after the five test subjects submitted saliva samples as DNA evidence. One by one, from behind his camera, he asked them what they believed their genealogies to be and recorded their responses. The interesting part would come later, when the results arrived and the kids would read them - for the first time - for a second filming.

The comparison of perception and reality promised to be interesting.

The results, though, came back later than Ellis expected. She was hoping to have them in time for the center's annual Black History Month celebration at the end of February, but the only ones to arrive by then were for Kaprice and for Ellis, who likewise wanted to be tested. The other results came in only recently.

Thursday afternoon, Alexandra and Serena were the only kids who did not know their true ancestries. Bankz was poised to film them a second time. The girls certainly weren't prepared for the results.

Alexandra, whose father owns Las Palmas, a Hispanic grocery in Washington, found out she is 57 percent American Indian and 36 percent European.

"Surprised?" Ellis asked, smiling.

"Mostly," said Alexandra, who looked mostly astonished.

Serena knew one great-grandmother was from Italy and that she had relatives from Germany and Ireland, but was semi-stunned to see she was 52 percent Irish, 15 percent Scandinavian and only 8 percent Italian.

Deitrick considers himself to be an African-American teen with a heavy concentration of relatives in the Chicago area. He also has a grandmother who is partly American Indian. But he is more European (52 percent) than African (43 percent), with a mix of many nations.

"I had no idea I was that much of a mix," he said.

Daisean has an interesting ancestral link. He is a descendant of Henrietta Lacks, who has gained renown as an unwitting contributor to amazing medical advances. Before she died of cervical cancer in 1951, at age 31, doctors removed two cervical samples without telling her. Henrietta's HeLa cells have been multiplied and used in a number of biomedical research procedures, and were instrumental in Jonas Salk's development of the polio vaccine.

In January, Daisean said his father is African-American, his mother is white and his family is mostly from Pittsburgh. He eventually discovered he is 33 percent Ivory Coast of Ghana, 21 percent Nigerian and 13 percent European. He was the only test subject who was not on hand for the DNA program Thursday.

Kaprice received her report more than two months ago and still considers it to be vague. She was told she has a gene that traces back about 15,000 years, and has a European background - without a breakdown of that background. Kaprice said a number of family members have hailed from around Carnegie and Pittsburgh, and that her mother is Irish with red hair.

Ellis also was surprised at her results, She said she is 36 percent European, with elements of France, Germany, England, Italy and Ireland - nations she, coincidentally, has visited. Ellis said she also is 24 percent West African descent.

"I'm zero percent native American Indian, which I thought might be the highest (percentage)," Ellis added.

Yet she wasn't totally surprised. When it comes to ancestry, the LeMoyne Center director realizes anything is possible.

"Skin tone is no matter," she told her young audience Thursday. "It's what the DNA says."

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DNA tests tell LeMoyne Center youth who they are - LancasterOnline

SAN DIEGO (NEWS 8) - In 2007, 39-year-old Jodine Serrin was living alone in her Carlsbad condo when she was raped and strangled. Ten years later a snapshot of what her killer could look like has been released.

Investigator Tony Johnson works cold cases withthe San Diego County District Attorney's office.

"It is very important to resolve these cases because somewhere out there is a family. We have DNA, but the DNA has no hit in the database," he said.

Johnson and Carlsbad police have not given up on solving Serrin's murder, but the case has hit a dead-end.

On the ten year anniversary of Serrin's murder, CBS News 8 reported investigators announced they would use a new tool called DNA Phenotypingto help catch the killer.

Johnson called it "a game changer."

Parabon Nanolabs, based in Virginia, is one of the first of its kind. Researchers have produced several snapshots of suspects based on one nanogram of DNA.

In Costa Mesa, a killer was identified. In North Carolina, a murderer pleaded guilty.

Dr. Ellen Greytak, director of Bioinformatics at Parabon, explained the sophisticated software has only been available for two-and-a-half years.

The software sifts through tens of thousands of genetic variants to simulate a face based on hair, skin, eye color, freckles, ancestry and quantifying faces with levels of confidence.

"The goal is exclusion. Phenotyping treats DNA like it's a blueprint and it contains all of the information of that person and actually uses that DNA to generate leads and narrow a suspect list," said Dr. Greytak.

The snapshot creates what the suspect would look like at age 25 and average weight.

Critics, however, argue this could encourage profiling.

"This is not for identification. The goal is not to produce a composite that look like only one person in the world," said Dr. Greytak.

Investigators said that since the snapshot was released in February, they have received confidential leads in Serrin's case - giving her family hope.

"I can walk now to her grave and say, 'Jodine, I'm still trying'" said Jodine's father.

In Jodine Serrin's case, investigators said the DNA Phenotyping cost them $7,000.

While the technology may not be admissible in court, District Attorney investigators said just like a tip they receive, it can be a lead or a guide for them in a case.

There is a $52,000 reward in the Jodine Serrincold casemurder. If you know anything or anyone who may resemble this man, call Carlsbad Police.

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DNA Breakthrough: Using DNA snapshots to reveal cold case killers - CBS 8 San Diego

KTLA

Catholic Priest's DNA Does Not Match Profile From Cold-Case Murder of Nun KTLA The negative results from the Maskell DNA profile comparison mean that [the] best hope for solving the case now lies with people who are still alive and willing to come forward with conclusive information about the murder, police said Wednesday in a ... DNA of exhumed priest does not match evidence from murder sceneWBAL Baltimore Police: Exhumed priest's DNA does not match evidence from crime ...Baltimore Sun Police: DNA exhumed from former priest does not match DNA from Sister CesnikABC2 News Fox Baltimore -CBS Baltimore / WJZ -Newser all 33 news articles »

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Catholic Priest's DNA Does Not Match Profile From Cold-Case Murder of Nun - KTLA

At random

As cells divide and grow, mutations may crop up in cancer-associated genes. A recent study found that more cancer mutations are caused by these random mistakes than other factors, such as environment or inheritance, Tina Hesman Saey reported in DNA errors play big role in cancer (SN: 4/15/17, p. 6).

John Day wondered if replication errors are truly random, not just unpredictable. And he questioned whether all cancers not known to be caused by inherited genes or the environment must be caused by replication errors. Isnt it plausible that many or most of the cancers attributed to replication errors in this study involve genetic or environmental factors that are too ubiquitous to be identified as such? Day asked.

Random in this case means that the mutations can happen anywhere in the genome. There are no particular hot spots for mutation, and these errors are not being directed by other factors. It is unpredictable in that sense, and the type of damage done to the DNA is also random, Saey says. DNA damage caused by replication errors includes copying mistakes, insertions or deletions of DNA, and chemical changes that alter the DNAs message. The key here is that something happens to the DNA in the cell, and that damage is replicated and passed on to subsequent cells. There are still many mysteries surrounding cancer, and this study is the researchers attempt to quantify the sources, Saey says.

In the past, the causes of mutations that couldnt be attributed to environment or heredity were indeed unknown, study coauthor Cristian Tomasetti says. Those unknown causes were generally assumed to be related to hereditary and environmental factors yet to be discovered. One of the key points of our paper is that a large portion of them are no longer unknown; we have an explanation, he says. Random mistakes account for approximately three mutations each time a cell divides, the researchers found.

The moon may have formed when a young Earth was whacked by a protoplanet named Theia. Or it could have formed from a string of impacts that created miniature moons that eventually merged. Both ideas are getting new scrutiny, Thomas Sumner reported in How Earth got its moon (SN: 4/15/17, p. 18).

NASAs Cassini spacecraft captured the closest images ever taken of Pan, a small moon that orbits Saturn among the planets rings. The moon bears a striking resemblance to ravioli thanks to its distinct ridges and smooth, round shape, Helen Thompson reported in Saturns moon Pan looks like ravioli (SN: 4/15/17, p. 10). Readers on Facebook weighed in on Pans odd appearance.

A turtle's shell Adrian Maestas

Buster Keaton's hat Roelof Mercury

Its core is a blend of molten cheese and spinach Michael Neeland

If the moon was the result of a long series of impacts from objects each about a hundredth to a tenth of Earths mass, over tens of millions of years, then why do Mars and Venus not have similar moons? asked Tim Cliffe. How could Earth have been subject to such a bombardment while the other terrestrial planets were somehow immune?

Earths neighbors were not immune to impacts. But each planets unique history may have shaped moons differently or prevented them from forming altogether, Sumner says.

Venus may have had a moon at one point, but it was probably lost as the moons orbit around the planet accelerated. Or perhaps the moon merged with another space rock that escaped Venus orbit, says planetary scientist Raluca Rufu of the Weizmann Institute of Science in Rehovot, Israel.

Unlike Venus, Mars has two moons. But Phobos and Deimos, among the smallest moons in the solar system, look more like misshapen asteroids than Earths moon, Sumner says. A large impact that may have contributed to the planets low-lying northern hemisphere could have formed the moons, Rufu points out. And in the southern hemisphere, a steady stream of impacts transformed the landscape.

On May 3, 2017, Science retracted the study described in Tiny plastics cause big problems for perch, lab study finds (SN: 6/25/16, p. 14). Based on findings from an independent review board in Sweden, Science pulled the study because: The experiments lacked ethical approval, the original data could not be provided and questions emerged about experimental methods.

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Readers ponder the randomness of DNA errors | Science News - Science News

PANAMA CITY, Fla. (WJHG/WECP) - In a unanimous ruling, the state's highest court has shot down more DNA testing in a Panama City murder case from 1982.

Kayle Bates, 59, is on death row after being convicted of kidnapping, murder, rape and robbery. Bates kidnapped Janet White, 24, from her State Farm Insurance office in Panama City on June 14, 1982. He killed her by stabbing her after he attempted to rape her. Her body was found that same day in woods near her office. After he killed her, Bates, who was 25 at the time, took a diamond ring from White, which he had on him when police arrested him.

Bates' latest appeal focused on ten items he claimed would prove he wasn't White's killer. But, in an opinion released Thursday, the Supreme Court of Florida said in the case of seven of the items, "we rejected Bates argument that DNA testing on these items would produce a reasonable probability of his exoneration in light of the accumulation of evidence establishing his identity as the perpetrator. "

The ruling continues: "Further, we affirm the circuit courts denial of DNA testing on the three remaining items not subject to the procedural bar. Regarding the first two items, Bates alleges that debris from the victims clothing, which includes a Caucasian hair sample that Bates alleges could not be his because he is African American, and the victims fingernail clippings could contain DNA of the actual killer and therefore exonerate him. Bates further argues that if DNA testing on these items excludes his DNA, he would also be exonerated. Like the seven items for which DNA testing has already been denied, favorable testing from these additional items would not establish that Bates is not the perpetrator, as the evidence of Bates guilt is overwhelming....In light of the overwhelming evidence of Bates guilt, there is no reasonable probability that the results of DNA testing on these three additional items would have resulted in his acquittal or reduced his sentence."

Bates is also appealing his death sentence. At his original trial in 1983, a jury recommend 11-1 that Bates be sentenced to death. Bates has been sentenced to die two other times, once in 1985 and again in 1995. His latest appeal focuses on a ruling last year from the Supreme Court of the United States stating all death recommendations have to be unanimous from juries and that juries, not judges, are who have the ultimate say in death penalty cases.

So far, the Supreme Court of Florida hasn't ruled on Bates' appeal of his death sentence. SCOFLA is awaiting word from the United States Supreme Court on if its ruling last year on unanimous jury recommendations regarding death sentences applies to cases before 2002.

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Appeal denied: Kayle Bates' call for DNA testing quashed by SCOFLA - WJHG-TV

BBC News

Privacy concerns as China expands DNA database BBC News China is building a vast DNA database with no appropriate privacy protection, human rights activists warn. While a genetic database of convicted or suspected criminals exists in many countries, China is thought to include anyone, regardless of valid ... China moves to expand DNA testing in Muslim region - ABC NewsABC News China Subjects Muslims to Mass DNA Collection, 'Moving Orwellian System to Genetic Level'Newsweek China Is Creating a DNA Database Straight Out of Science FictionDefense One Voice of America -Human Rights Watch all 17 news articles »

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Privacy concerns as China expands DNA database - BBC News

Prosecutors used DNA evidence to link Norman L. Pryor to the rape of a woman in Canton last August.

CANTON One in a trillion.

Those are the statistical odds of finding another person with the DNA that links Norman L. Pryor to the rape of a woman in Canton last August, according to a forensic analyst.

Sam Troyer, of the Ohio Bureau of Criminal Investigation, testified Thursday for the prosecution during Pryor's trial in Stark County Common Pleas Court on three rape charges and single counts of felonious assault and kidnapping.

Troyer was expected to be the last witness called by the Stark County Prosecutor's Office before resting its case. It was unclear whether the defense would call any witnesses before sending the case to a jury of 10 women and four men, including two alternates.

The DNA testimony culminated more than two days of prosecution witnesses.

Earlier this week, the woman testified that on Aug. 1 she had parked her vehicle and was walking to work at Aultman Hospital about 5:30 a.m. when a man wearing a ski mask, dark clothes and hoodie tackled her to the ground. (The Canton Repository does not generally name the victims of sexual assault.)

She said the man sexually assaulted her in the parking lot area before forcing her to get into her vehicle and drive away. Answering questions from Fred Scott, an assistant Stark County prosecutor, she said the man ordered her to park in the Arlington Avenue NW area, where he raped her two times while also hitting her in the jaw area repeatedly and choking her about five times. The woman told jurors the assailant threatened to slit her throat with a box-cutter and told her he would kill her family if she reported the crimes to authorities.

During Tuesday's testimony, she said she couldn't identify the man's face because of the ski mask but said his voice matches that of Pryor, who had started the trial representing himself before abruptlyasking standby attorney Derek Lowry to take over.

After being raped in the backseat of her vehicle, she testified, the perpetrator used a reusable bag to wipe his semen from her body. He discarded the bag outside the vehicle in the Arlington and Third Street NW area, the woman said.

After reporting the rape, the woman described to police the route she said she had driven with the assailant. Investigators then found the shopping bag and had it tested by the Ohio BCI.

Troyer said that DNA consistent with Pryor's was found from a stain on the bag. The analyst said he wouldn't expect to find the same DNA profile in more than one in one trillion random people. Under prosecution questioning, Troyer said there are less than one trillion people on the planet.

Pryor's DNA profile also was found in a sample taken from the woman's body, said Troyer, citing the same one in a trillion statistical odds for the results.

Lowry questioned the basis and formula for the statistical analysis.

Scott asked Troyer a rebuttal question: "Are you confident with your statistical analysis in this case?"

"Yes, I am," Troyer replied.

Reach Ed at 330-580-8315and ed.balint@cantonrep.com

On Twitter: @ebalintREP

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Expert: DNA links Norman Pryor to rape - Canton Repository

SmartNews Keeping you current This smart tag contains synthetic DNA and other security measures to help authenticate and track the provenance of canvas. (Tagsmart)

smithsonian.com May 17, 2017

Is your favorite piece of art legitimate? If its the work of a skilled forger, it may be impossible to tell. But copycats are now on notice, reports artnet's Henri Neuendorf, thanks to a long-term effort to figure out how to give paintings their own unique DNA.

Neuendorf reports that Tagsmart, an English startup, has released a product that gives canvas a synthetic DNA tag. And though its not exactly like human beings genetic code, its pretty dang close.

Smart Tags, as theyre called, use tiny amounts of synthetic DNA known as taggants to watermark canvas. The synthetic DNA and other organic compounds are stuck to the canvas with an adhesive beneath a 1.5-inch-diameter tag that also includes a unique reference number. The flexible tag moves along with canvas and has a unique nanotechnology identifier thats linked to an online record that identifies the canvas and tracks its provenance. And if its tampered with, it becomes useless. All in all, reports Neuendorf, the tags are packed with more than 20 high-tech security features.

Scientists have been searching for a way to use DNA to fight fakers for years. As The New York Times Tom Mashberg reports, the State University of New York at Albany has also invested in trying to figure out how to bioengineer unique signatures for art. But Tagsmart is the first company to get a solution to marketand into the hands of potential users.

It could catch on, especially since the company developed the product along with artists, galleries, estates and foundations. In a press release, Tagsmart writes that the product is a response to the vulnerability of the unregulated global art market.

That lack of regulation has led to multiple recent scandals and scams, such as when Knoedler & Co.shut its doors after supposedly buying and selling dozens of fake paintings, including pricey Jackson Pollocks and Mark Rothkos. (The gallery has since settled more than one multimillion dollar lawsuit.)

There are other ways to prove arts provenance: For example, blockchain, the technology behind cryptocurrency Bitcoin, is now being used to authenticate some pieces of digital art. And art dealers and auction houses like Sothebys are increasingly hiring their own scientists to solve what humans simply havent been able to.

Can science really make art harder to forge? Perhaps. But the proof will be in the puddingand until the reward is less than the risk, its safe to bet that would-be forgers will keep on copying.

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Can Giving Paintings Their Own DNA Stop Art Forgery? - Smithsonian

What to know about: ARSACS and our test

ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop during early childhood.

How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.

What do we test? 1 variant in the SACS gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 67 samples with known variant status. 67 out of 67 genotype results were correct. About 1 in 5,200 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

ACCPN is a rare genetic disorder. It is characterized by an incomplete connection between the two sides of the brain. This causes developmental disability, weakness, and loss of sensation. A person must have two variants in the SLC12A6 gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop during infancy.

How it's treated: There is currently no known cure. Treatment focuses on physical and occupational therapy as well as other forms of supportive care as symptoms worsen, often into adulthood.

What do we test? 1 variant in the SLC12A6 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop before birth or during infancy.

How it's treated: There is currently no known cure. Treatment focuses on managing the symptoms of kidney, lung, and liver disease, as well as managing blood pressure.

What do we test? 3 variants in the PKHD1 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 149 samples with known variant status. 149 out of 149 genotype results were correct. About 1 in 35,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop any time from late infancy (severe form) into adulthood (intermediate form).

How it's treated: Treatment focuses on managing symptoms and preventing complications. Some individuals may require frequent blood transfusions.

What do we test? 10 variants in the HBB gene. Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG for people of African, Southeast Asian, and Mediterranean descent considering having children.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 461 samples with known variant status. 461 out of 461 genotype results were correct. About 1 in 11,200 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer. A person must have two variants in the BLM gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop during infancy.

How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.

What do we test? 1 variant in the BLM gene. Carrier testing for Bloom syndrome is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the variant recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 70 samples with known variant status. 70 out of 70 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Canavan disease is a rare genetic disorder characterized by a loss of nerve cell function in the brain that worsens over time. A person must have two variants in the ASPA gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop during infancy.

How it's treated: There is currently no known cure. Treatment focuses on preventing complications by monitoring diet, treating infectious diseases, and managing seizures.

What do we test? 3 variants in the ASPA gene. Carrier testing for Canavan disease is recommended by ACMG for people of Ashkenazi Jewish descent considering having children. This test includes the two variants recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 212 samples with known variant status. 212 out of 212 genotype results were correct.

PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. It is characterized by developmental delay, muscle weakness, and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop in infancy.

How it's treated: There is currently no known cure. Treatment focuses on nutritional, occupational, speech, and physical therapy.

What do we test? 2 variants in the PMM2 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 100 samples with known variant status. 100 out of 100 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop during infancy.

How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as lung infections and malnutrition.

What do we test? 28 variants in the CFTR gene. The American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 21 of the 23 variants recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 1,514 samples with known variant status. 1,514 out of 1,514 genotype results were correct. About 1 in 610 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone, developmental disability, seizures, and early death. A person must have two variants in the HSD17B4 gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop at birth or during infancy.

How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.

What do we test? 2 variants in the HSD17B4 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 97 samples with known variant status. 97 out of 97 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

DLD deficiency is a rare genetic disorder. It is typically characterized by low muscle tone and episodes of brain injury accompanied by liver disease. A person must have two variants in the DLD gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms can develop anytime from infancy to adulthood

How it's treated: There is currently no known cure. Treatment focuses on maintaining a stable metabolic state through diet. Blood tests can be used for routine monitoring and to guide dietary recommendations.

What do we test? 1 variant in the DLD gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 50 samples with known variant status. 50 out of 50 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Familial dysautonomia is a rare genetic disorder that affects many different parts of the body. It is characterized by severe dysfunction in different parts of the nervous system involved in movement, the senses, and involuntary (autonomic) functions. A person must have two variants in the IKBKAP gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms are typically present at birth.

How it's treated: There is currently no known cure. Treatment focuses on managing nerve dysfunction by providing medications and supportive care.

What do we test? 1 variant in the IKBKAP gene. Carrier testing for familial dysautonomia is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 59 samples with known variant status. 59 out of 59 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Fanconi anemia group C is a rare genetic disorder. It is characterized by a decreased production of blood cells, birth defects, and an increased risk of infections and cancer. A person must have two variants in the FANCC gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms can develop anytime from birth to adulthood.

How it's treated: There is currently no known cure. Treatment focuses on increasing the number of blood cells, managing disabilities, and screening for cancer. Stem cell transplants may correct blood cell problems in some cases.

What do we test? 3 variants in the FANCC gene. Carrier testing for Fanconi anemia group C is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the one variant recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 145 samples with known variant status. 145 out of 145 genotype results were correct. About 1 in 43,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

GRACILE syndrome is a rare genetic disorder. It is characterized by impaired growth before birth, iron buildup, liver damage, and death in infancy. A person must have two variants in the BCS1L gene in order to have this condition.

Typical signs and symptoms

When symptoms develop Symptoms typically develop before birth.

How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and ultimately providing end-of-life supportive care.

What do we test? 1 variant in the BCS1L gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 46 samples with known variant status. 46 out of 46 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.

Gaucher disease type 1 is a rare genetic disorder that can affect many organs. It often leads to an enlarged liver and spleen, as well as bone abnormalities. A person must have two variants in the GBA gene, or two copies of a variant, in order to have Gaucher disease type 1.

Typical signs and symptoms

When symptoms develop Symptoms can develop anytime from childhood to adulthood and can vary from mild to severe. Some people may never develop symptoms.

How it's treated: There is currently no known cure. Treatment varies depending on the severity of symptoms, but often includes enzyme replacement therapy.

What do we test? 3 variants in the GBA gene. Carrier testing for Gaucher disease type 1 is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes two of four variants recommended for testing by ACMG.

Relevant ethnicities:

Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 438 samples with known variant status. 437 out of 438 genotype results were correct. The performance of this test may be affected by the presence of rare mutations, such as c.1265_1319del55.

GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and poor growth. A person must have two variants in the G6PC gene in order to have this condition.

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DNA Genetic Testing & Analysis - 23andMe