U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 140

Tests names and labsConditionsGenes, analytes, and microbesMethods

PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NeXT Dx

Personalis, Inc.
United States
1413
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome, Type 1 and 3 - PAX 3 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - RTP
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

PAX3 Gene Waardenburg syndrome type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Tempus xT

Tempus AI - CHI
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
122128
  • E Sequence analysis of select exons

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

AudioloGene Hearing Loss Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1200
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PAX3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 140

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.