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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

Myeloid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
7434
  • C Sequence analysis of the entire coding region

PDGFRB - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myofibromatosis, infantile, 1, 228550, Autosomal dominant; IMF1 (Infantile myofibromatosis) (PDGFRB 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

Parkinson's disease panel. NGS panel of 22 genes.

Genologica Medica
Spain
4522
  • C Sequence analysis of the entire coding region

Dystonia panel. NGS panel of 20 genes.

Genologica Medica
Spain
3520
  • C Sequence analysis of the entire coding region

PDGFRB gene mutations

Duzen Laboratories Duzen BBAGUAS
Turkey
41
  • T Targeted variant analysis

Vascular Anomalies (VANseq) Expanded Del/Dup Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • D Deletion/duplication analysis

Vascular Anomalies (VANseq) Expanded Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
5047
  • C Sequence analysis of the entire coding region

Infantile myofibromatosis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Infantile Myofibromatosis Type 1 , Sequencing PDGFRB Gene

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

Basal ganglia calcification Panel

CeGaT GmbH
Germany
5227
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.