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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

SPECC1L - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VACTERL Association and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12384
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Disorders of Sex Development Panel

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

Facial clefting, oblique, 1, 600251, Isolated cases; OBLFC1 (Tessier number 4 facial cleft) (SPECC1L 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

Facial clefting, oblique, 1, 600251, Isolated cases; OBLFC1 (Tessier number 4 facial cleft) (SPECC1L 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

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177163
  • 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

Facial clefting, oblique, 1: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Craniosynostosis panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2020
  • C Sequence analysis of the entire coding region

Craniofacial panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
4848
  • 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

Craniofacial Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SPECC1L Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.