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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

AKR1C4 Gene 46,XY sex reversal type 8, modifier of NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

AKR1C4 - NGS including CNV analysis

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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

46,XY sex reversal 8, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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

46,XY sex reversal 8, modifier of, 614279, Autosomal recessive (46,XY disorder of sex development due to testicular 17,20-desmolase deficiency) (AKR1C4 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

Ambiguous Genitalia Panel

PreventionGenetics, Part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) Panel

PreventionGenetics, Part of Exact Sciences
United States
149158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Differences of Sex Development (DSD) and Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
223238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
128139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Panel

PreventionGenetics, Part of Exact Sciences
United States
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Deletion-Duplication analysis of Multiple Genes

GeneDx
United States
120
  • D Deletion/duplication analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Custom XomeDx Slice – Disorders of Sex Development (Proband Only) 

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Custom XomeDxSlice (2-150 Genes, Proband Only)

GeneDx
United States
11718
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

46,XY sex reversal: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1110
  • C Sequence analysis of the entire coding region

46,XY Sex Reversal NGS Panel

Fulgent Genetics
United States
169
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AKR1C4 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.