SMPD1

OMIMHGNC

Synonym(s): ASM

Locus: 11p15.4-p15.1

Protein: Sphingomyelin phosphodiesterase 1 isoform 5

 

Disorders

Filter By:

Test Type
Biochemical
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Capillary (Sanger)
Sequencing, Next Gen
Genotyping (Microarray, Beads, etc.)
Quantitative Biochemical Analysis
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Canada
Czech Republic
Estonia
Turkey
USA

Tests

Test Details Laboratory
Acid Sphingomyelinase (SMPD1) Deficiency Testmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: contact lab
price: contact lab
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
Ashkenazi Jewish Carrier Multi-Gene Panelmethod(s):
◦ Sequencing, Next Gen
◦ Genotyping (Microarray, Beads, etc.)

TAT: 4-6 weeks
price: contact lab
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Ashkenazi Jewish Carrier Screening Panel: DNA Onlymethod(s):

TAT: 5-6 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosismethod(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: contact lab
price: contact lab
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Ashkenazic Genetic Disease Screen (with CF)method(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: 3-4 weeks
price: contact lab
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Ashkenazic Genetic Disease Screen (without CF)method(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: 3-4 weeks
price: contact lab
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Carrier Screening Panel: Ashkenazi Jewishmethod(s):

TAT: 5-7 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Comprehensive Epilepsy Evaluation NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 16-20 weeks
price: contact lab
Transgenomic - New Haven - New Haven, CT, USA
devSEEK Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disordersmethod(s):
◦ Sequencing, Next Gen

TAT: 3-5 weeks
price: contact lab
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Epilepsy NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA
epiSEEKĀ® Comprehensive Sequence Analysis for Epilepsy and Seizure Disordersmethod(s):
◦ Sequencing, Next Gen

TAT: 3-5 weeks
price: contact lab
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Lysosomal Disorders NGS Panelmethod(s):
◦ Sequencing, Next Gen

TAT: 4-6 weeks
price: contact lab
Fulgent Diagnostics - Temple City, CA, USA
Lysosomal Storage Disorders: Sequencing Panelmethod(s):

TAT: 12-13 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Neonatal and Adult Cholestasis: Sequencing Panelmethod(s):

TAT: 3-4 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Niemann Pick Disease Type AandB (see Ashkenazi Jewish Screening Panel)method(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: 4-6 weeks
price: contact lab
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Niemann-Pick Disease (Type A and B): SMPD1 Gene Deletion/Duplicationmethod(s):

TAT: 4-5 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Niemann-Pick Disease (Type A and B): SMPD1 Gene Sequencingmethod(s):

TAT: 4-5 weeks
price: contact lab
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Niemann-Pick Disease Type Amethod(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: 3-4 weeks
price: contact lab
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Niemann-Pick Disease Types A and B via the SMPD1 Genemethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 3-4 weeks
price: $750.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Niemann-Pick Disease Types A and B via the SMPD1 Genemethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-5 weeks
price: $990.00
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Niemann-Pick Disease, Types A and B, Full Gene Analysismethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: contact lab
price: contact lab
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Niemann-Pick Disease, Types A and B, Known Mutationmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: contact lab
price: contact lab
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Niemann-Pick Disease, Types A and B, Mutation Analysismethod(s):
◦ Genotyping (Microarray, Beads, etc.)

TAT: contact lab
price: contact lab
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Niemann-Pick Genetic Test (SMPD1 Gene)method(s):
◦ Sequencing, Capillary (Sanger)

TAT: 3-4 weeks
price: contact lab
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
SMPD1 Del/Dupmethod(s):
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 3-4 weeks
price: contact lab
GeneDx - Gaithersburg, MD, USA
SMPD1 Gene Sequencingmethod(s):
◦ Sequencing, Capillary (Sanger)
◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)

TAT: 6-7 weeks
price: contact lab
GeneDx - Gaithersburg, MD, USA
SMPD1 Hot Spotsmethod(s):
◦ Sequencing, Capillary (Sanger)

TAT: 4-5 weeks
price: contact lab
GeneDx - Gaithersburg, MD, USA
Sphingomyelinase-Fmethod(s):
◦ Quantitative Biochemical Analysis

TAT: 3-4 weeks
price: contact lab
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Sphingomyelinase-Wmethod(s):
◦ Quantitative Biochemical Analysis

TAT: 2 weeks
price: contact lab
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA