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Results: 1 to 20 of 48

Tests names and labsConditionsGenes, analytes, and microbesMethods

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • 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

Labcorp Genetics (formerly Invitae) LabCorp
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

Opitz GBBB syndrome, type II, 145410, Autosomal dominant; GBBB2 (Opitz G/BBB syndrome) (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

Opitz GBBB syndrome, type II, 145410, Autosomal dominant; GBBB2 (Opitz G/BBB syndrome) (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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Cleft Lip/Cleft Palate Panel

PreventionGenetics, part of Exact Sciences
United States
177161
  • 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

Opitz G/BBB Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
77
  • 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

Craniofacial Panel

Genetic Services Laboratory University of Chicago
United States
3135
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss + mtDNA

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
218300
  • C Sequence analysis of the entire coding region

Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
169
  • C Sequence analysis of the entire coding region

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Results: 1 to 20 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.