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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

HR - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Atrichia with papular lesions, 209500, Autosomal recessive; APL (Atrichia with papular lesions) (HR 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

Alopecia universalis congenita and Atrichia with papular lesions NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alopecia universalis congenita and Atrichia with papular lesions Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
21
  • 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 panel. 23-gene NGS panel.

Genologica Medica
Spain
6023
  • C Sequence analysis of the entire coding region

Atrichia with papular lesions: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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

ATRICHIA WITH PAPULAR LESIONS

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

HR Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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.