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 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

CYP21A2 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Adrenal Hyperplasia due to 21-Hydroxylase deficiency

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CYP21A2 - MLPA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis

CYP21A2 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
11
  • C Sequence analysis of the entire coding region

Congenital Adrenal Hyperplasia (CAH) Panel

Centogene AG - the Rare Disease Company
Germany
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (CYP21A2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hyperandrogenism, nonclassic type, 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

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Autosomal recessive (Congenital adrenal hyperplasia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

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

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

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

Results: 1 to 20 of 69

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.