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Results: 41 to 60 of 203

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Spastic Paraplegia Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
87106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

GM2-gangliosidosis, several forms, 272800, Autosomal recessive (Tay-Sachs disease) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

GM2-gangliosidosis, several forms, 272800, Autosomal recessive (Tay-Sachs disease) (HEXA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

GM2-gangliosidosis, several forms, 272800, Autosomal recessive (Tay-Sachs disease) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

GM2-gangliosidosis, several forms, 272800, Autosomal recessive (Tay-Sachs disease) (HEXA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Tay-Sachs disease, 272800, Autosomal recessive; TSD (Tay-Sachs disease) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Tay-Sachs disease, 272800, Autosomal recessive; TSD (Tay-Sachs disease) (HEXA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Tay-Sachs disease, 272800, Autosomal recessive; TSD (Tay-Sachs disease) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Tay-Sachs disease, 272800, Autosomal recessive; TSD (Tay-Sachs disease) (HEXA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

[Hex A pseudodeficiency], 272800, Autosomal recessive (Tay-Sachs disease) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

[Hex A pseudodeficiency], 272800, Autosomal recessive (Tay-Sachs disease) (HEXA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen without X-linked Disorders

Invitae
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Invitae
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hexosaminidase A Deficiency (including Tay-Sachs Disease)

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 203

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.