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Results: 1 to 20 of 32 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Cerebellar Hypoplasia Panel

Genetic Services Laboratory University of Chicago
United States
818
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Pontocerebellar hypoplasia type 6

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

RARS2 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis

RARS2 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • T Targeted variant analysis

RARS2 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RARS2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar Hypoplasia Type 6 via the RARS2 Gene

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

MitoMet®Plus aCGH Analysis

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

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PONTOCEREBELLAR HYPOPLASIA TYPE 6

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

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
185145
  • 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

Single gene testing RARS2

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

nucSEEK® Focus Nuclear Mitochondrial Gene Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
166172
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pontocerebellar hypoplasia type 6 (sequence analysis of RARS2 gene)

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

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
174204
  • C Sequence analysis of the entire coding region

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37302
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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