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Results: 21 to 40 of 65

Tests names and labsConditionsGenes, analytes, and microbesMethods

Harlequin Ichthyosis

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • S Mutation scanning of the entire coding region

Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Ichthyosis and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
157
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Ichthyosis, AR 4B (harlequin) (sequence analysis of ABCA12 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Ichthyosis, AR 4B (harlequin) (deletion/duplication analysis on ABCA12 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Congenital Ichthyosis Slice

GeneDx
United States
149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
287578
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Ichthyosis and Ectodermal Dysplasia Panel

Mendelics
Brazil
258
  • C Sequence analysis of the entire coding region

ABCA12 . Complete sequencing by NGS

Laboratorio de Genetica Clinica SL
Spain
11
  • E Sequence analysis of select exons

Results: 21 to 40 of 65

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.