U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

See more countries

Results: 21 to 40 of 93

Tests names and labsConditionsGenes, analytes, and microbesMethods

Variant Resolution Test for RenalNext® (+RNAinsight®)

Ambry Genetics
United States
577
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Variant Resolution Test for PGLNext® (+RNAinsight®)

Ambry Genetics
United States
261
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

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

FH - fumarase deficiency, autosomal recessive

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RenalNext®

Ambry Genetics
United States
5720
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGLNext®

Ambry Genetics
United States
2614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FH gene sequence and deletion/duplication

Ambry Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cancer®

Ambry Genetics
United States
14791
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CancerNext-Expanded®

Ambry Genetics
United States
12271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
122117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Paraganglioma-Pheochromocytoma (PGL/PCC) Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Hereditary Leiomyomatosis and Renal Cell Cancer or Fumarase Deficiency via the FH Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Hereditary pediatric cancer panel. NGS panel of 71 genes.

Genologica Medica
Spain
15871
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 93

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.