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Results: 1 to 18 of 18 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Ichthyosis follicularis, atricia, and photophobia syndrome

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

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MBTPS2. Complete sequencing

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Ichthyosis Follicularis-Atrichia-Photophobia with or without BRESHECK Syndrome , Sequencing MBTPS2 Gene

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

MBTPS2 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MBTPS2 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

IFAP syndrome with or without BRESHECK syndrome

Bioarray
Spain
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

MBTPS2

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

MBTPS2

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devSEEK® Sequence Analysis for Neurodevelopmental Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
261201
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
13891
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID NGS Panel

Fulgent Genetics
United States
187107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome (sequence analysis of MBTPS2 gene)

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

Ichthyosis Follicularis with Atrichia and Photophobia Syndrome: MBTPS2 Gene Deletion/Duplication

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • D Deletion/duplication analysis

Ichthyosis Follicularis with Atrichia and Photophobia Syndrome: MBTPS2 Full Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • 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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