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Results: 1 to 20 of 51

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • 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

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

Sialic acid storage disorder

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

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • -- Deletion/duplication analysis
  • -- Sequence analysis of select exons
  • -- Sequence analysis of the entire coding region

Sialuria, Finish type

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Salla Disease

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Urine for oligosaccharide by TLC

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
31
  • A Analyte

Ataxia Exome Panel

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

Sialic Acid Storage Disorder (Salla Disease) via SLC17A5 Gene Sequencing with CNV Detection

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

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
610355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
356209
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
510275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sialic Acid Storage Disease (SLC17A5 Single Gene Test)

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
719336
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
639299
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
664307
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
693327
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Lysosomal Storage Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8354
  • -- Deletion/duplication analysis

Free Sialic Acid Storage Disorders: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 51

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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