CYP27B1

OMIMHGNC

Synonym(s): CYP1, P450c1, VDD1, PDDR

Locus: 12q14.1

Protein: 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial

 

Disorders

Filter By:

Test Type
Molecular
Panel
Test Method
Sequencing, Capillary (Sanger)
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Entire Coding Region
Sequencing, Next Gen
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Korea, Republic of
Spain
USA

Tests

Test
TAT: 5-6 weeks
price: contact lab
CYP27B1 Select Exons Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
CYP27B1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
CYP27B1-related VDDR test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Hereditary Hypocalcemic Rickets Vitamin D Dependent, Sequencing CYP27B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 7 genes: ALPL, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
Nuclear-Mito 500 NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 3-5 weeks
price: contact lab
nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-4 weeks
price: contact lab
Rickets, vitamin D-dependent, type I (VDDR I)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Rickets, vitamin D-dependent, type I (VDDR I)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2 weeks
price: contact lab
Rickets, vitamin D-dependent, type I (VDDR I)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA