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Results: 1 to 20 of 35

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA)

BloodGenetics
Spain
3933
  • C Sequence analysis of the entire coding region

TBCE - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Kenny-Caffey syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kenny-Caffey syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kenny-Caffey syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kenny-Caffey syndrome, type 1, 244460, Autosomal recessive; KCS1 (Kenny-Caffey syndrome) (TBCE 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

Kenny-Caffey syndrome, type 1, 244460, Autosomal recessive; KCS1 (Kenny-Caffey syndrome) (TBCE 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kenny-Caffey syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kenny-Caffey syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kenny-Caffey syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Kenny-Caffey Syndrome Type 1 via the TBCE 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

Hypoparathyroidism Panel

PreventionGenetics, Part of Exact Sciences
United States
1515
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 35

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.