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 149

Tests names and labsConditionsGenes, analytes, and microbesMethods

Short syndrome testing (PIK3R1)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis 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

Tempus xT

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

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

ALPS Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PIK3R1 Gene Immunodeficiency type 36 NGS Genetic DNA Test

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

PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic DNA Test

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

PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test

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

Lipodystrophy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tempus xT

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

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Tempus xF

Tempus AI - RTP
United States
1105
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR

PathGroup
United States
16160
  • T Targeted variant analysis

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

PIK3R1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuro-Onc Expanded Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1118
  • E Sequence analysis of select exons

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 149

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.