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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lysosomal Storage Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

[Chitotriosidase deficiency], 614122, Autosomal recessive (CHIT1 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Invitae Comprehensive Lysosomal Storage Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8757
  • D Deletion/duplication analysis

Invitae Lysosomal Storage Disorders Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
1910
  • D Deletion/duplication analysis

Chitotriosidase deficiency (sequence analysis of CHIT1 gene)

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

Lysosomal Storage Diseases Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
5043
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

CHITOTRIOSIDASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHIT1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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