SRD5A2

OMIMHGNC

Locus: 2p23.1

Protein: 3-oxo-5-alpha-steroid 4-dehydrogenase 2

 

Disorders

Tests

Test Type
Molecular (34)
Multi-Gene Panel (19)
Multi-Method Panel (8)
Test Method
Del/Dup (CNV) (12)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (11)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (17)
Prenatal/Carrier
Prenatal (16)
Carrier (24)
Lab Location
USA(23)
Spain(3)
Portugal(1)
Korea, Republic of(1)
Turkey(2)
Germany(2)
Poland(1)
Finland(1)
 
Steroid 5-Alpha-Reductase Deficiency (SRD5A2) Sequening Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Steroid 5-alpha reductase deficiency test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 2 weeks
price: contact lab
5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Steroid 5-Alpha-Reductase Deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 3-4 weeks
price: contact lab
SRD5A2 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
SRD5A2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: contact lab
Prenatal SRD5A2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Pseudovaginal Perineoscrotal Hypospadias, Sequencing SRD5A2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, 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
5-alpha-reductase deficiency type 3 (sequence analysis of SRD5A2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Steroid 5-Alpha-Reductase Deficiency
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency Type 2: SRD5A2 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
5-Alpha Reductase Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 8-9 weeks
price: contact lab
Abnormal/Ambiguous Genitalia Sequencing Test
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Pseudovaginal Perineoscrotal Hypospadias , Deletions-Duplications (MLPA) SRD5A2 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 Weeks
price: contact lab
SRD5A2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 8-9 weeks
price: contact lab
Hypospadias Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 3-5 weeks
price: $2,240.00
Disorders of Sex Development and Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development and Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Disorders of Sex Development Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Disorders of Sex Development Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Female Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Female Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $2,190.00
Male Infertility Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,670.00
Male Infertility Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: $2,000.00
Androgen Insensitivity Panel (AR and SRD5A2 Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $2,000.00
Disorders of Sexual Development / Pseudohermaphroditism Panel (10 Genes Sequenced)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: ~2 weeks
price: $1,500.00
Steroid 5-Alpha-Reductase Deficiency (SRD5A2 Sequencing)
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Androgen Insensitivity Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Disorders of Male Sex Development Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
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 - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Abnormal Genitalia/ Disorders of Sex Development Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA