CYP2R1

OMIMHGNC

Locus: 11p15.2

Protein: Vitamin D 25-hydroxylase

 

Disorders

Tests

Test Type
Molecular (8)
Multi-Gene Panel (5)
Multi-Method Panel (2)
Test Method
Del/Dup (CNV) (3)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (6)
Prenatal/Carrier
Prenatal (1)
Carrier (3)
Lab Location
Portugal(2)
USA(2)
Germany(3)
Spain(1)
 
Rickets due to defect in vitamin D 25-hydroxylation (sequence analysis of gene CYP2R1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Rickets (NGS panel for 10 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Skeletal dysplasia with abnormal mineralization Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-5 Weeks
price: contact lab
CYP2R1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Abnormal Mineralization, Panel Massive Sequencing (NGS) 28 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Rickets, vitamin D 25-hydroxylation-deficient, type 1B
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Abnormal mineralization panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4 weeks
price: contact lab
Hypophosphatemic Rickets Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA