CHIT1

OMIMHGNC

Synonym(s): CHIT, CHI3

Locus: 1q32.1

Protein: Chitotriosidase-1

 

Disorders

Tests

Test Type
Molecular (4)
Multi-Gene Panel (1)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (1)
Sequencing, Capillary (Sanger) (4)
Sequencing, Next Gen (2)
Prenatal/Carrier
Prenatal (1)
Carrier (2)
Lab Location
Portugal(1)
USA(2)
Spain(1)
 
Chitotriosidase deficiency (sequence analysis of CHIT1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
CHIT1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Chitotriosidase Deficiency, Sequencing CHIT1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA