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Results: 21 to 40 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Cleft lip, cleft palate and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cleft lip, cleft palate and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleft lip, cleft palate and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1917
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Stickler Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
3012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stickler Syndrome Gene Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3913
  • C Sequence analysis of the entire coding region

Craniosynostosis panel. NGS panel of 37 genes.

Genologica Medica
Spain
11337
  • C Sequence analysis of the entire coding region

Renal malformation panel. NGS panel of 22 genes.

Genologica Medica
Spain
4422
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

BMP4 Gene Sequence Analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • C Sequence analysis of the entire coding region

Female Infertility

Asper Biogene Asper Biogene LLC
Estonia
8564
  • C Sequence analysis of the entire coding region

Orofacial cleft: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
87
  • C Sequence analysis of the entire coding region

Renal Malformation NGS Panel

Fulgent Genetics
United States
4315
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS Panel

Fulgent Genetics
United States
33961
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kidney Dysplasia NGS Panel

Fulgent Genetics
United States
6841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 46

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.