CYP27B1

OMIMHGNC

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

Locus: 12q14.1

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

 

Disorders

Tests

Test Type
Molecular (20)
Panel (9)
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) (4)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (7)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (7)
Carrier (10)
Lab Location
Korea, Republic of(1)
Spain(3)
USA(13)
Portugal(1)
Poland(2)
 
CYP27B1-related VDDR test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 2-3 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: 2-3 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: 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: 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
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 5-6 weeks
price: contact lab
CYP27B1 Select Exons Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 1-2 weeks
price: contact lab
Rickets, vitamin D-dependent, type I (VDDR I)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Hereditary Hypocalcemic Rickets Vitamin D Dependent, Sequencing CYP27B1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Vitamin D-dependent rickets type I (sequence analysis of CYP27B1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Vitamin D-Dependent Rickets, Type I: CYP27B1 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
CYP27B1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $1,755.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $2,550.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $4,105.00
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA

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