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Results: 21 to 40 of 87

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Adrenal Hyperplasia (CAH) Panel

PreventionGenetics, part of Exact Sciences
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

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) 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

qGenEx Sex development disorders

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

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel

Genetic Services Laboratory University of Chicago
United States
911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Test for 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia

Hehr Laboratory Center for Human Genetics Regensburg
Germany
11
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cogenital adrenal hyperplasia (NGS panel of 6 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
16
  • C Sequence analysis of the entire coding region

Male Infertility Panel

CGC Genetics Unilabs
Portugal
1165
  • C Sequence analysis of the entire coding region

Female Infertility Panel

CGC Genetics Unilabs
Portugal
1129
  • C Sequence analysis of the entire coding region

Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
146
  • C Sequence analysis of the entire coding region

3-beta-hydroxysteroid dehydrogenase deficiency type II (sequence analysis of HSD3B2 gene)

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

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 87

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.