Filters

See more specimen types...

Other countries

Results: 1 to 20 of 25 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Mucolipidosis III gamma

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

GNPTG. Complete sequencing

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

Mucolipidosis and Stuttering via the GNPTG Gene

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

MUCOLIPIDOSIS TYPE III ALPHA/BETA

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

Mucolipidosis Type III Gamma , Sequencing GNPTG Gene

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

Eye diseases comprehensive panel

Asper Biotech Asper Biotech Ltd.
Estonia
351275
  • 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 Mucolipidosis Panel

Invitae
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

UNKL

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3052447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RETINITIS PIGMENTOSA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
5657
  • C Sequence analysis of the entire coding region

RETINITIS PIGMENTOSA A.R.

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1541
  • C Sequence analysis of the entire coding region

Single gene testing GNPTG

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

Mucolipidosis type III gamma (sequence analysis of GNPTG gene)

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

lysoSEEK™ Sequence Analysis for Lysosomal Storage Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11588
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GNPTG

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

Stuttering NGS Panel

Fulgent Genetics
United States
43
  • 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

Retinitis Pigmentosa NGS Panel

Fulgent Genetics
United States
14388
  • 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

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