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Results: 21 to 40 of 48 (representing 31 labs)

Tests names and labsConditionsGenes and analytesMethods

46,XY complete gonadal dysgenesis (sequence analysis of SRY)

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

46,XY complete gonadal dysgenesis (sequence analysis of SRY)

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

46XY Sex Reversal Type 1 , Sequencing SRY Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

46XX Sex Reversal Type 1 , Sequencing SRY Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

SRY-related 46,XY complete gonadal dysgenesis

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Genitalia/ Disorders of Sex Development Panel

Blueprint Genetics
Finland
439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Disorders of Male Sex Development Panel

Invitae
United States
268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal/Ambiguous Genitalia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
8272
  • C Sequence analysis of the entire coding region

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2926
  • C Sequence analysis of the entire coding region

46,XY complete gonadal dysgenesis

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

46XX sex reversal 1 (sequence analysis of SRY gene)

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

Prenatal SRY Gene Sequencing

GeneDx
United States
11
  • C Sequence analysis of the entire coding region

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

SRY Gene Sequencing

GeneDx
United States
11
  • S Mutation scanning of the entire coding region

SRY: SRY gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
21
  • C Sequence analysis of the entire coding region

Swyer syndrome

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Swyer syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

SRY: SRY gene deletions analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
21
  • T Targeted variant analysis

Y-Chromosome Analysis

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • T Targeted variant analysis

Results: 21 to 40 of 48

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.

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