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hereditary disease

May 23, 2017

GeneDx, Blueprint Genetics to Add FDNA's Phenotyping Analysis to Genetic Testing Workflow

FDNA's Face2Gene suite analyzes phenotypic data, including facial features, from rare disease patients.

May 23, 2017

Dante Labs Offers Direct-to-Consumer Hereditary Disease Risk, Genome, Exome Tests in Europe

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The company, which has offices in Italy and New York, outsources the analysis to partner laboratories and offers genetic counseling as an option.

Dec 08, 2016

Centogene Enters Clinical Whole-Genome Sequencing Market for Rare Disease Diagnostics

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The company has installed Illumina's HiSeq X sequencing platform and expects to sequence 20,000 genomes by the end of next year.

Nov 17, 2016

NIPD Genetics Pursues Potential of Methylation Markers for Prenatal Testing, Other Applications

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The company has also expanded its current Veracity NIPT to sex chromosomal aneuplodies and twin pregnancies, and plans to offer microdeletion testing next year.

Oct 31, 2016

FDNA Bets on Facial Recognition Software to Boost Diagnosis of Rare Genetic Syndromes

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The company launched an updated version of its Face2Gene software suite earlier this month at the American Society of Human Genetics annual meeting.

Oct 03, 2016

Germline Mutations Uncovered Through Tumor Sequencing Present Challenges for Providers

Clinicians and genetic counselors are coming up with triage strategies for cancer cases in which medically actionable germline mutations are suspected.

Sep 01, 2016

As Exome Sequencing in Diagnostics Becomes Routine, Dutch Clinical Lab Sees Future in Whole Genomes

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Last year, Radboud University Medical Centre's genetics lab conducted about 6,000 diagnostic exome tests and ran 2,000 nex-gen sequencing-based BRCA1/2 hereditary cancer assays.

Aug 01, 2016

UK's Prenatal Genome and Exome Study Aims to Improve Diagnosis After Abnormal Ultrasound

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The project has recruited nearly half of the 1,000 families it plans to analyze and has completed the exome analysis for about 160.

Jul 28, 2016

Noninvasive Prenatal Screening Can Replace Current Trisomy Screening in All Age Groups, ACMG Says

ACMG said in a position statement that NIPS can replace conventional screening for Patau, Edwards, and Down syndrome in most women.

Jul 27, 2016

Australia's Garvan Institute Forms Startup to Offer Whole-Genome Sequencing Service

The WGS service will be provided by Genome.One, a new health information company owned by and based at the Garvan Institute of Medical Research in Sydney.

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The Scan

Mix of Human and Monkey

NPR reports that researchers have developed chimeric embryos as part of work toward growing human organs in animals for organ transplants.

Fetal Tissue Policy Changes Expected

According to the Washington Post, the Biden Administration is set to make changes to federal restrictions on fetal tissue research.

Science Papers on Approach to Isolate DNA from Sediment, Algorithm to Construct Signaling Networks

In Science this week: approach to isolated trace DNA from archaic humans from sediments, and more.

Sequencing the Zoo

Texas Monthly looks into the DNA Zoo being collected by Baylor College of Medicine researchers.

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