CYP21A2

OMIMHGNC

Synonym(s): P450c21B, CA21H, CPS1, CAH1, CYP21, CYP21B

Locus: 6p21.33

Protein: Steroid 21-monooxygenase

 

Disorders

Tests

Test Type
Molecular (53)
Multi-Gene Panel (21)
Multi-Method Panel (25)
Test Method
Del/Dup (CNV) (22)
Mutation Scanning of Select Exons (3)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (25)
Genotyping (Microarray, Beads, etc.) (6)
Repeat Expansion / Contraction (1)
Uniparental Disomy (1)
Sequencing, Next Gen (22)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (18)
Carrier (31)
Lab Location
Spain(8)
Estonia(1)
Poland(3)
USA(8)
Turkey(3)
Greece(1)
Portugal(4)
Bulgaria(1)
Germany(7)
Korea, Republic of(1)
India(1)
Brazil(1)
Canada(10)
Finland(2)
Austria(1)
Iran, Islamic Republic of(1)
 
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
21-hydroxylse-deficient Congential adrenal hyperplasia test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Congenital Adrenal Hyperplasia Test (the CYP21A2 gene - the most common mutations) - MLPA analysis
method(s): ◦ Del/Dup (CNV) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 11-12 weeks
price: contact lab
CYP21A2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-3 weeks
price: contact lab
Congenital Adrenal Hyperplasia (CYP21A2 Gene)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 7-8 weeks
price: contact lab
Detection of the most frequent mutations on the CYP21A2 gene (including MLPA)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the CYP21A2 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Detection of large deletions and/or duplications in the CYP21A2 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-5 weeks
price: contact lab
Congenital Adrenal Hyderplasia
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneTech - Hyderabad, India
Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency, Mutations and Deletions-Duplications CYP21A2 Gene
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Congenital Adrenal Hyperplasia due to 21-Beta-Hydroxylase Deficiency, Sequencing CYP21A2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
21-Hydroxylase-Deficient Congenital Classical Adrenal Hyperplasia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
21-Hydroxylase-Deficient Congenital Nonclassical Adrenal Hyperplasia
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
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
TAT: 1-2 weeks
price: contact lab
Congenital Adrenal Hyperplasia
method(s): ◦ Sequencing, Capillary (Sanger) 
Genomic Engenharia Molecular Ltda - Sao Paulo, Brazil
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
Congenital Adrenal Hyperplasia
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
TAT: 7-10 days
price: contact lab
Congenital Adrenal Hyperplasia Test (due to 21-hyroxylase deficiency)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-4 weeks
price: contact lab
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
21-hydroxylase deficiency (frequent mutations and deletion/duplication analysis on CYP21A2 gene)
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
21-hydroxylase deficiency (sequence analysis of CYP21A2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Adrenal congenital hyperplasia due to 21-hydroxylase deficiency (deletion/duplication analysis of CYP21A2 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 3-4 weeks
price: contact lab
CYP21A2 Gene Sequencing (21-Beta-Hydroxylase Deficiency)
method(s): ◦ Sequencing, Capillary (Sanger) 
Cidegen, SL - Salamanca, Spain
TAT: 3-4 weeks
price: contact lab
CYP21A2 deletions and/or duplications (21-hydroxylase deficiency)
method(s): ◦ Del/Dup (CNV) 
Cidegen, SL - Salamanca, Spain
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CYP21A2 Deletions/Duplications and Sequencing
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria
Ashkenazi Jewish genetic disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Congenital Adrenal Hyperplasia, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
CYP21A2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 6-8 weeks
price: contact lab
Congenital adrenal hyperplasia due to 21-Hydroxylase deficiency: CYP21A2 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal
TAT: 3-4 weeks
price: contact lab
Abnormal Genitalia/ Disorders of Sex Development Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Congenital Adrenal Hyperplasia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-3 weeks
price: $870.00
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency via the CYP21A2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Adrenal hyperplasia, congenital (Adrenogenitales Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 1 week
price: contact lab
CEN4GEN rapid carrier screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
CEN4GEN rapid diagnostic screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency : Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1 week
price: contact lab
Non-classic hyperandrogenism due to 21-hydroxylase deficiency: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: ~2 weeks
price: contact lab
Adrenal hyperplasia due to 21-hydroxylase deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia Test
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Genomic Research Center, Shahid Beheshti University of Medical Sciences - Tehran, Iran, Islamic Republic of
TAT: 4-5 weeks
price: contact lab
Congenital adrenal hyperplasia panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
21-Hydroxylase Gene (CYP21A2), Full Gene Analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Endocrine Laboratory - Rochester, MN, USA
TAT: 2-3 days
price: contact lab
CEN4GEN Rapid supplemental newborn screen: Full gene sequencing panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada