Niemann-pick Disease, Type A

Description

Niemann-Pick disease types A and B are caused by an inherited deficiency of acid sphingomyelinase activity. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset nonneurologic form (type B) that is compatible with survival into adulthood. Since intermediate cases also have been reported, the disease is best regarded a single entity with a clinical spectrum (summary by Schuchman, 2007).Knudson and Kaplan (1962) suggested that 3 types of the disorder can be distinguished: infantile cerebral, juvenile cerebral, and noncerebral. Later, 5 forms of Niemann-Pick disease were distinguished. Four were delineated by Crocker (1961): the classical infantile form (type A), the visceral form (type B), the subacute or juvenile form (type C; {257220}), and the Nova Scotian variant (type D; see {257220}). The fifth, the adult form (type E; see {607616}), was described by Terry et al. (1954) and Lynn and Terry (1964). Schneider et al. (1978) used the designation type F (see {607616}) for a form characterized in 2 patients by a thermolabile enzyme. Most patients fall into Crocker's group A, with death before age 3 years.Schuchman (2007) provided a detailed review of Niemann-Pick disease type A, including clinical management.

Clinical Features

Top most frequent phenotypes and symptoms related to Niemann-pick Disease, Type A

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Muscle weakness
  • Spasticity
  • Hepatomegaly
  • Splenomegaly
And another 25 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Niemann-pick Disease, Type A have a estimated birth prevalence of 0.25 per 100k worldwide.


Mendelian

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Niemann-pick Disease, Type A Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories in United States.

SMPD1, ASPA, ELP1, FANCC, GBA
Specificity
20 %
Genes
100 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories in United States.

SMPD1, ASPA, ELP1, FANCC, GBA
Specificity
20 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
8 %
Genes
100 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1
Specificity
7 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Niemann-Pick A/B Disease.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SMPD1
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Niemann Pick Disease Type A.

By Center for Human Genetics, Inc in United States.

SMPD1
Specificity
100 %
Genes
100 %
Ashkenazi Jewish Carrier Screening Panel.

By Center for Human Genetics, Inc in United States.

BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, FANCC, GBA, BLM, FKTN, NEB, MCOLN1, ABCC8, TMEM216, F11
Specificity
6 %
Genes
100 %
Test for Acid Sphingomyelinase Deficiency.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease, DNA Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

SMPD1
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Ashkenazi Jewish Diseases, 16 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ELP1, FANCC, BLM, NEB, MCOLN1, ABCC8, TMEM216
Specificity
8 %
Genes
100 %
Niemann-Pick Type A (SMPD1), 4 Variants.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Acid Sphingomyelinase Deficiency.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

SMPD1
Specificity
100 %
Genes
100 %
SMPD1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SMPD1
Specificity
100 %
Genes
100 %
SMPD1. Detection of the mutations p.Arg498Leu, p.Leu304Pro, p.Phe333SerfsX52 and p.Arg610del by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SMPD1
Specificity
100 %
Genes
100 %
SMPD1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease type A and B (sequence analysis of SMPD1 gene).

By CGC Genetics in Portugal.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick disease (deletion/duplication analysis of NPC1, NPC2 and SMPD1 genes).

By CGC Genetics in Portugal.

SMPD1, NPC1, NPC2
Specificity
34 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Niemann-Pick Disease Types A and B via the SMPD1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

DTNBP1, SMPD1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, GBA, WAS, MYH9, BLOC1S6, LYST, VWF, GP1BA, ANO6, GP6, TBXA2R, P2RY12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Niemann-Pick disease.

By GeneTech ATS GeneTech Private Limited in India.

SMPD1
Specificity
100 %
Genes
100 %
FTD - ALS panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP, SMPD1, GRN, SOD1, NPC1, NPC2, FIG4, MAPT, ALS2, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB
Specificity
7 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Niemann-Pick disease type A/B.

By Centogene AG - the Rare Disease Company in Germany.

SMPD1
Specificity
100 %
Genes
100 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Single gene testing SMPD1.

By CeGaT GmbH in Germany.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick disease typa A and B.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick disease, type A .Acid Sphingomyelinase Deficiency-SMPD1.

By GGA - Galil Genetic Analysis in Israel.

SMPD1
Specificity
100 %
Genes
100 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Lysosomal Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1, GALC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
SMPD1.

By Division Human Genetics Medical University Innsbruck in Austria.

SMPD1
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Lysosomal Storage Disorders Newborn Screening Panel.

By Invitae in United States.

GAA, SMPD1, GALC, GLA, IDS, IDUA
Specificity
17 %
Genes
100 %
Invitae Niemann-Pick Disease Types A and B Panel.

By Invitae in United States.

SMPD1
Specificity
100 %
Genes
100 %
Invitae Comprehensive Lysosomal Storage Disorders Panel.

By Invitae in United States.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Niemann-Pick disease type A-B: SMPD1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease (Type A and B): SMPD1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease (Type A and B): SMPD1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
100 %
ACOG/ACMG Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
10 %
Genes
100 %
ACOG/ACMG Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
10 %
Genes
100 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
100 %
Inheritest NGS, Society Guided Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
9 %
Genes
100 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Niemann-Pick Disease, Type A.

By Integrated Genetics Westborough Integrated Genetics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Ashkenazi Jewish Carrier Testing.

By Integrated Genetics Westborough Integrated Genetics in United States.

BCKDHA, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
6 %
Genes
100 %
Niemann-Pick Disease Type B (SMPD1).

By Integrated Genetics Westborough Integrated Genetics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
SMPD1.

By Fulgent Genetics Fulgent Genetics in United States.

SMPD1
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Niemann-Pick Disease Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SMPD1
Specificity
100 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Interstitial Lung Disease Panel.

By Blueprint Genetics in Finland.

SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Liver Failure Panel.

By Blueprint Genetics in Finland.

ALDOB, ATP7B, SMPD1, PHKA2, FAH, PYGL, PHKG2, MPI, PHKB, GALT, GALE, GALK1, LIPA, NPC1, NPC2, SERPINA1
Specificity
7 %
Genes
100 %
Niemann-Pick disease type B.

By Bioarray in Spain.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick disease type A.

By Bioarray in Spain.

SMPD1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Niemann-Pick Disease Type B , Sequencing SMPD1 Gene.

By Reference Laboratory Genetics in Spain.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick Disease Type A , Sequencing SMPD1 Gene.

By Reference Laboratory Genetics in Spain.

SMPD1
Specificity
100 %
Genes
100 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
planTrue ACOG & ACMG Screen.

By True Health Diagnostics in United States.

HBB, SMPD1, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
8 %
Genes
100 %
planTrue Standard.

By True Health Diagnostics in United States.

BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
planTrue Jewish Screen.

By True Health Diagnostics in United States.

BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, NEB, MCOLN1, ABCC8, TMEM216
Specificity
6 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Niemann-Pick disease, type A: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMPD1
Specificity
100 %
Genes
100 %
Niemann-Pick disease, type B: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SMPD1
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Niemann-pick Disease, Type A Is also known as sphingomyelin lipidosis, sphingomyelinase deficiency;.



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