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Results: 1 to 18 of 18

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

ABCA12. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Autosomal Recessive Congenital Ichthyosis (ARCI) via the ABCA12 Gene

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

Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection

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

ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
109
  • C Sequence analysis of the entire coding region

Congenital Ichthyosis Type Harlequin Fetus , Sequencing ABCA12 Gene

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

ICHTHYOSIS CONGENITA, HARLEQUIN-TYPE

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

ICHTHYOSIS (CONGENITAL)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
98
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
302301
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Harlequin ichthyosis

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

ABCA12 Select Exon Sequencing

GeneDx
United States
11
  • E Sequence analysis of select exons

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

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

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

ABCA12 Gene Sequencing

GeneDx
United States
11
  • S Mutation scanning of the entire coding region

ABCA12

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCA12

Institute for Human Genetics University Clinic Freiburg
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.

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