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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

ALDH18A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Cutis laxa Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cutis laxa Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
79
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperammonemia Panel

PreventionGenetics, part of Exact Sciences
United States
6663
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cutis laxa, autosomal dominant 3, 616603, Autosomal dominant; ADCL3 (Autosomal dominant cutis laxa) (ALDH18A1 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

Cutis laxa, autosomal dominant 3, 616603, Autosomal dominant; ADCL3 (Autosomal dominant cutis laxa) (ALDH18A1 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 Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progeroid syndromes and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progeroid syndromes and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 43

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.