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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Klippel-Feil syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Klippel-Feil syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Klippel-Feil syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Klippel-Feil syndrome 1, autosomal dominant, 118100, Autosomal dominant; KFS1 (Isolated Klippel-Feil syndrome) (GDF6 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

Klippel-Feil syndrome 1, autosomal dominant, 118100, Autosomal dominant; KFS1 (Isolated Klippel-Feil syndrome) (GDF6 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

Klippel-Feil Syndrome Panel

PreventionGenetics, Part of Exact Sciences
United States
96
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

Klippel-Feil syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Klippel-Feil syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Klippel-Feil syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Klippel-Feil Syndrome via the GDF6 Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Klippel-Feil syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • 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

Klippel-Feil Syndrome , Panel Massive Sequencing (NGS) GDF3, GDF6, MEOX1 Genes

Reference Laboratory Genetics
Spain
33
  • C Sequence analysis of the entire coding region

KLIPPEL-FEIL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
44
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.