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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

PTCH2 Gene Basal cell nevus syndrome due to germline PTCH2 mutation NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

PTCH2 - NGS including CNV analysis

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

Neuro-Onc Expanded Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1118
  • E Sequence analysis of select exons

Basal cell nevus syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Basal cell nevus syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Basal cell nevus syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Basal cell carcinoma, somatic, 605462 (Gorlin syndrome) (PTCH2 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

Basal cell nevus syndrome, 109400, Autosomal dominant; BCNS (Gorlin syndrome) (PTCH2 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

Basal cell nevus syndrome, 109400, Autosomal dominant; BCNS (Gorlin syndrome) (PTCH2 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

Medulloblastoma, somatic, 155255 (Medulloblastoma) (PTCH2 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

Medulloblastoma Panel

PreventionGenetics, part of Exact Sciences
United States
219
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Pediatric Cancer Panel

PreventionGenetics, part of Exact Sciences
United States
7864
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Basal cell nevus syndrome - PTCH2 Deletion / Duplication test

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

Basal cell nevus syndrome - PTCH2 Comprehensive test

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

Basal cell nevus syndrome - PTCH2 NGS test

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

Basal cell nevus syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Basal cell nevus syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Basal cell nevus syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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.