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Results: 1 to 15 of 15 (representing 11 labs)

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

Ichthyosiform erythroderma, congenital, nonbullous type 1

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

NIPAL4. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

Autosomal Recessive Congenital Ichthyosis (ARCI) via the NIPAL4 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Ichthyosis and Related Disorders Sequencing Panel

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

ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL

Laboratorio de Genetica Clinica SL
Spain
44
  • C Sequence analysis of the entire coding region

ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL

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

ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE

Laboratorio de Genetica Clinica SL
Spain
19
  • 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

Congenital lamellar ichthyosis type 6

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

Ichthyosis, congenital, AR 6 (sequence analysis of NIPAL4 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

NIPAL4

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NIPAL4

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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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