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Results: 1 to 20 of 65

Tests names and labsConditionsGenes and analytesMethods

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
326204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi Carrier Screen (56 Genes)

EVOLVEGENE EvolveGene
United States
10256
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
327204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher disease

Insight Medical Genetics
United States
11
  • C Sequence analysis of the entire coding region

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
2423
  • E Enzyme assay

Plasma Chitotriosidase

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
31
  • E Enzyme assay

Liver and Spleen panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
76
  • E Enzyme assay

Cherry red spot and Neuroregression panel

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
76
  • E Enzyme assay

Gaucher Disease

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • E Enzyme assay

Gaucher Disease, DNA analysis

Molecular Diagnostic Laboratory LabCorp
United States
11
  • T Targeted variant analysis

Lysosomal Storage Disease: Panel Enzyme Activity (12 Enzymes), Leukocytes

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
1312
  • E Enzyme assay

Gaucher Disease: Chitotriosidase (CHITO) Enzyme Activity, Serum

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Gaucher Disease: Beta-Glucosidase Enzyme Activity, Leukocytes

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Gaucher Disease: Angiotensin Converting Enzyme (ACE) Enzyme Activity, Serum

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Gaucher Disease: Tartrate Resistant Acid Phosphatase (TRAP) Enzyme Activity, Serum

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • E Enzyme assay

Gaucher Disease: Biomarker Panel (ACE, CHITO, TRAP) Enzyme Activities, Serum

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
13
  • E Enzyme assay

GBA mutation analysis

Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
2020
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Results: 1 to 20 of 65

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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