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Results: 1 to 15 of 15 (representing 10 labs)

Tests names and labsConditionsGenes and analytesMethods

17 beta hydroxysteroid dehydrogenase deficiency

Clinical Biochemistry Laboratory Health Services Laboratory
United Kingdom
11
  • C Sequence analysis of the entire coding region

17-beta Hydroxysteroid Dehydrogenase III Deficiency

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
11
  • C Sequence analysis of the entire coding region

Pseudohermaphroditism with gynecomastia

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

17-beta hydroxysteroid dehydrogenase X deficiency

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

Disorders of Sex Development Sequencing Panel

PreventionGenetics
United States
6469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Disorders of Sex Development and Infertility Sequencing Panel

PreventionGenetics
United States
8696
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Male Infertility Sequencing Panel

PreventionGenetics
United States
7380
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Female Infertility Sequencing Panel

PreventionGenetics
United States
7683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Sex development disorders

Quantitative Genomic Medicine Laboratories, SL
Spain
4548
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

46,XY Disorder of Sex Development (DSD) via the HSD17B3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Pseudohermaphroditism with gynecomastia (sequence analysis of HSD17B3 gene)

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

HSD17B3

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

Results: 1 to 15 of 15

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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