Filters

See more specimen types...

Other countries

Results: 1 to 20 of 25 (representing 15 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

AllNeuro panel

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

Metachromatic leukodystrophy, due to Saposin B deficiency

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

MitoMet®Plus aCGH Analysis

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

Metachromatic Leukodystrophy via the PSAP Gene

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

Metachromatic Leukodystrophy Sequencing Panel

PreventionGenetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

METACHROMATIC LEUKODYSTROPHY (ARYLSULFATASE A DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Prosaposin Deficiency Test

Invitae
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metachromatic Leukodystrophy Panel

Invitae
United States
83
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukodistrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4658
  • -- Sequence analysis of the entire coding region

PSAP Gene Sequencing

GeneDx
United States
41
  • C Sequence analysis of the entire coding region

Single gene testing PSAP

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • -- Sequence analysis of the entire coding region

Prosaposin deficiency (sequence analysis of PSAP gene)

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

Prosaposin, deficiency: secuencing of PSAP gene

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
41
  • C Sequence analysis of the entire coding region

PSAP

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disorders: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8855
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
193106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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.

Support Center