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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

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

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • D Deletion/duplication analysis

Invitae Disorders of Sex Development Panel

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

46,XY sex reversal 1, 400044; SRXY1 (46,XY complete gonadal dysgenesis) (SRY 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

46,XY sex reversal 1, 400044; SRXY1 (46,XY complete gonadal dysgenesis) (SRY 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 Disorders of Female Sex Development Test

Invitae
United States
11
  • D Deletion/duplication analysis
  • 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

SRY Molecular Analysis

Baylor Genetics
United States
21
  • T Targeted variant analysis

SRY-Related Differences of Sex Development via the SRY 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

SRY MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • D Deletion/duplication analysis

Detection by FISH of sexual chromosomes (X/SRY)

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

Infertility

Genologica Medica
Spain
2511
  • 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

SRY Deletion (FISH)

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • M FISH-metaphase

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

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

SRY-Related 46,XY DSD and 46,XY CGD

Warren G. Sanger Human Genetics Laboratory Nebraska Medicine (formerly a UNMC Lab)
United States
11
  • I FISH-interphase
  • M FISH-metaphase

Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2

Reference Laboratory Genetics
Spain
74
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.