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Results: 1 to 20 of 39 (representing 20 labs)

Tests names and labsConditionsGenes and analytesMethods

Cerebral cavernous malformations 1 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral cavernous malformations 1 (CCM1) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Cerebral cavernous malformations 1 (CCM1) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

CCM2, KRIT1, PDCD10. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
33
  • C Sequence analysis of the entire coding region

Cerebral Cavernous Malformations Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KRIT1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

CCM2. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

KRIT1. Detection of the mutation c.1363C>T by sequencing

Instituto de Medicina Genomica
Spain
31
  • T Targeted variant analysis

PDCD10. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

CCM2, KRIT1, PDCD10. MLPA testing

Instituto de Medicina Genomica
Spain
33
  • D Deletion/duplication analysis

Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene

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

Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10 "Common Hispanic

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
1114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Cerebral Cavernous Malformation Type 1, Sequencing KRIT1 (CCM1) Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Cerebral Cavernous Malformation Panel

Blueprint Genetics
Finland
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Vascular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
2321
  • C Sequence analysis of the entire coding region

Invitae Cerebral Cavernous Malformations Panel

Invitae
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CEREBRAL CAVERNOUS MALFORMATION, FAMILIAL

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
33
  • C Sequence analysis of the entire coding region

Vascular and lymphatic disorders Panel

CeGaT GmbH
Germany
1818
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

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.

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