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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

SNRPE Gene Hypotrichosis type 11 NGS Genetic DNA Test

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

SNRPE - NGS including CNV analysis

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

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotrichosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypotrichosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypotrichosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotrichosis 11, 615059, Autosomal dominant; HYPT11 (Hypotrichosis simplex) (SNRPE 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

Hypotrichosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypotrichosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypotrichosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
142
  • C Sequence analysis of the entire coding region

Hypotrichosis (WES based NGS panel of 10 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
110
  • C Sequence analysis of the entire coding region

HYPOTRICOSIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
19
  • E Sequence analysis of select exons

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Hypotrichosis: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1311
  • C Sequence analysis of the entire coding region

Nonsyndromic Hypotrichosis NGS Panel

Fulgent Genetics
United States
2410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYPOTRICHOSIS SIMPLEX

Laboratorio de Genetica Clinica SL
Spain
210
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel

CeGaT GmbH
Germany
2955
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.