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Results: 21 to 40 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Comprehensive Monogenic Obesity Panel

PreventionGenetics, part of Exact Sciences
United States
4352
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bardet-Biedl Syndrome (BBS) Panel

PreventionGenetics, part of Exact Sciences
United States
2627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Retinitis pigmentosa panel

Genologica Medica
Spain
164108
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Congenital liver fibrosis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8950
  • C Sequence analysis of the entire coding region

Bardet-Biedl syndrome panel. 23-gene NGS panel.

Genologica Medica
Spain
4423
  • C Sequence analysis of the entire coding region

Monogenic obesity panel. 36-gene NGS panel.

Genologica Medica
Spain
5536
  • C Sequence analysis of the entire coding region

ARL6 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

ARL6 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

ARL6 Sequence Analysis (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

ARL6

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Bardet-Biedl Syndrome: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2323
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 52

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.