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Results: 21 to 40 of 105

Tests names and labsConditionsGenes, analytes, and microbesMethods

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Labcorp Genetics (formerly Invitae) LabCorp
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Myriad Genetics, Inc.
United States
21
  • T Targeted variant analysis

Congenital Adrenal Hyperplasia (CAH) Panel

PreventionGenetics, part of Exact Sciences
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital adrenal Hyperplasia gene sequencing

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • S Mutation scanning of the entire coding region

qCarrier Plus

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

Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CAH (21-Hydroxylase Deficiency) Gene Sequencing

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • C Sequence analysis of the entire coding region

CAH (21-Hydroxylase Deficiency) Common Mutations

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cogenital adrenal hyperplasia (NGS panel of 6 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
16
  • C Sequence analysis of the entire coding region

Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
146
  • C Sequence analysis of the entire coding region

Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis on CYP21A2 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 105

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.