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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Lymphedema, hereditary, IC, 613480, Autosomal dominant; LMPH1C (Milroy disease) (GJC2 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

Lymphedema, hereditary, IC, 613480, Autosomal dominant; LMPH1C (Milroy disease) (GJC2 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Lymphedema Panel

PreventionGenetics, part of Exact Sciences
United States
1514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9862
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJC2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

GJC2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

GJC2 Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region

Hereditary Lymphedema via the GJC2 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lymphedema, hereditary, IC (sequence analysis of GJC2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Vascular Anomalies and Mosaic Disorders

Children's Hospital of Los Angeles, Center for Personalized Medicine
United States
84
  • E Sequence analysis of select exons

Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes.

Genologica Medica
Spain
9674
  • C Sequence analysis of the entire coding region

Lymphatic malformations and related disorders panel. NGS panel of 11 genes.

Genologica Medica
Spain
3111
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.