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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

NR5A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spermatogenic failure 8, 613957, Autosomal recessive; SPGF8 (Male infertility with azoospermia or oligozoospermia due to single gene mutation) (MLPA)

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

Spermatogenic failure 8, 613957, Autosomal recessive; SPGF8 (Male infertility with azoospermia or oligozoospermia due to single gene mutation) (NR5A1 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

Hypospadias Panel

PreventionGenetics, Part of Exact Sciences
United States
15673
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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) 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

NR5A1-Related Disorders via the NR5A1 Gene

PreventionGenetics, Part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NR5A1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • D Deletion/duplication analysis

Spermatogenic failure 8 (SPGF8, sequence analysis of NR5A1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Infertility

Genologica Medica
Spain
2511
  • C Sequence analysis of the entire coding region

Panel of premature ovarian failure. NGS panel of 15 genes.

Genologica Medica
Spain
5015
  • C Sequence analysis of the entire coding region

Genital Abnormalities / Sex Development Disorders Panel

Genologica Medica
Spain
9549
  • C Sequence analysis of the entire coding region

Spermatogenic failure: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3938
  • 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

Male Infertility NGS Panel

Fulgent Genetics
United States
7945
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility NGS Panel

Fulgent Genetics
United States
9256
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Female Infertility NGS Panel

Fulgent Genetics
United States
7641
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.