Genetic Disorders: Page 2

NGS working group provides recommendations for germline variant confirmation

By Elissa Wolfson

A joint report provides eight recommendations for standardizing orthogonal confirmation practices for germline variants detected by next-generation sequencing.

May 19, 2023

Cost-benefit analysis supports adoption of routine genetic testing

By Elissa Wolfson

A cost-benefit analysis recommends genetic testing of all adults under age 40 for three conditions posing a high risk of life-threatening illness.

May 9, 2023

Experts advocate expanding newborn screening to cover treatable genetic childhood diseases

By Nick Paul Taylor

Increased knowledge of the genetic drivers for a broader range of diseases and the development of targeted medicines for them means it is now possible to screen and treat a wider range of conditions than is covered by current laboratory screening tests.

May 8, 2023

Gene variant map helps diagnose hereditary diabetes

By Elissa Wolfson

High-throughput experiments reveal connections between inherited disease and GCK gene variants, potentially providing better diagnoses of hereditary diabetes.

May 4, 2023

UC San Francisco becomes first California hospital to offer pharmacogenetic testing

By Nick Paul Taylor

When a patient agrees to undergo pharmacogenetic testing, UC San Francisco will bill their insurance and post the results in its portal within two weeks.

May 4, 2023

Bionano announces study findings for optical genome mapping of rare reproductive system disorder

By LabPulse.com staff writers

MRKH results in the absence or underdevelopment of female reproductive organs; a secondary type of the disorder is also associated with skeletal, auditory, and cardiac valve abnormalities.

March 22, 2023

Bionano Laboratories launches new optical genome mapping tests

By LabPulse.com staff writers

These tests offer genome-wide assessment of structural variants (SVs) and testing for most common and rare chromosomal abnormalities to assist clinicians in both diagnosing and managing their patients’ medical conditions.

March 15, 2023

Toxic protein linked to both muscular dystrophy and arhinia

By Elissa Wolfson

DUX4, a toxic protein made by the body, may cause two different rare genetic disorders: FSHD2 muscular dystrophy, and a facial malformation called arhinia.

February 17, 2023

Study finds 41% of infant deaths associated with genetic diseases

By Elissa Wolfson

Researchers have found the genetic disease contribution to infant deaths to be higher than expected; neonatal diagnosis strategies may decrease infant mortality.

February 9, 2023

BillionToOne announces clinical data on NIPT for recessive conditions

By LabPulse.com staff writers

The firm's Unity Screen is designed to assess fetal risk of recessive conditions such as cystic fibrosis, sickle cell disease, the thalassemias, and spinal muscular atrophy.

December 6, 2022

Sema4|GeneDx announces study results on mitochondrial disease testing

By LabPulse.com staff writers

The study, undertaken with 966 infants in NICUs, found that nearly 10% of infants referred for exome sequencing plus mtDNA testing were diagnosed with a mitochondrial disorder, accounting for 29% of diagnostic cases overall.

December 5, 2022

Bionano to use OptraHealth's AI platform for genetic counseling

By LabPulse.com staff writers

"We have chosen to incorporate the HealthFax platform into the Bionano Laboratories workflow with the intent to increase operational efficiencies while also improving the overall experience for our clients," Erik Holmlin, president and CEO of Bionano Laboratories' parent company, Bionano Genomics, said in a statement. "With the implementation of these new tools, Bionano Laboratories will be able to scale as it expands services in the future."

September 25, 2022

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