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Results: 1 to 20 of 34 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Porencephaly 2 - Sanger / Del Dup Comprehensive

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

Porencephaly 2 (POREN2) - Deletion/Duplication

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

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Porencephaly 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
12
  • C Sequence analysis of the entire coding region

COL4A2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Comprehensive Muscular Dystrophy / Myopathy Panel

Blueprint Genetics
Finland
251
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LGMD and Congenital Muscular Dystrophy Panel

Blueprint Genetics
Finland
233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Collagen Type VI-Related Disorders Panel

Blueprint Genetics
Finland
26
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorder Panel

Blueprint Genetics
Finland
147
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vascular and connective tissue diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
367
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary diseases - panels

Medizinisch Genetisches Zentrum München MGZ München
Germany
331
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL4A2 - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
11
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Hemorrhage, intracerebral, susceptibility to

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • C Sequence analysis of the entire coding region

Porencephaly gene panel

Connective Tissue Laboratory Ghent University Hospital
Belgium
22
  • C Sequence analysis of the entire coding region

COL4A2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
21
  • E Sequence analysis of select exons

Results: 1 to 20 of 34

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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