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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Meckel Gruber Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert/Meckel-Gruber syndrome Panel

Genetic Services Laboratory University of Chicago
United States
3441
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KIF14 - NGS including CNV analysis

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

Joubert syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3931
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3931
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meckel syndrome 12, 616258, Autosomal recessive; MKS12 (Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome) (KIF14 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

Meckel syndrome 12, 616258, Autosomal recessive; MKS12 (Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome) (KIF14 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

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert syndrome and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert syndrome and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3737
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy Panel

PreventionGenetics, part of Exact Sciences
United States
135133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Joubert and Meckel-Gruber Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
4338
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ciliopathy panel. NGS panel of 99 genes.

Genologica Medica
Spain
15297
  • C Sequence analysis of the entire coding region

Meckel syndrome panel. NGS panel of 13 genes.

Genologica Medica
Spain
2912
  • C Sequence analysis of the entire coding region

Meckel syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1513
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.