Gaucher Disease, Perinatal Lethal

Description

Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease (OMIM ) (Mignot et al., 2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Gaucher Disease, Perinatal Lethal

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Ptosis
  • Abnormal facial shape
  • Anemia
And another 63 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Gaucher Disease, Perinatal Lethal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Gaucher Disease Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories in United States.

GBA
Specificity
100 %
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 %
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 %
Gaucher Disease.

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

GBA
Specificity
100 %
Genes
100 %
Gaucher disease.

By Center for Human Genetics, Inc in United States.

GBA
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 Gaucher Disease.

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

GBA
Specificity
100 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

POLG, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, ATP13A2, TAF1, CSF1R, FBXO7, SLC6A3, VPS35
Specificity
6 %
Genes
100 %
Gaucher Disease, DNA analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

GBA
Specificity
100 %
Genes
100 %
GBA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease.

By Molecular Genetics Rabin Medical Center in Israel.

GBA
Specificity
100 %
Genes
100 %
GBA.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GBA
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 %
Gaucher Disease (GBA), 8 Variants.

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

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease.

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

GBA
Specificity
100 %
Genes
100 %
GBA mutation analysis.

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

GBA
Specificity
100 %
Genes
100 %
GBA. Detection of the mutations p.Asn370Ser, p.Leu444Pro, c.93_94insG and c.27 1G>A by sequencing.

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

GBA
Specificity
100 %
Genes
100 %
GBA. Complete sequencing.

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

GBA
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Gaucher disease (sequence analysis of GBA gene).

By CGC Genetics in Portugal.

GBA
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics in Portugal.

POLG, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Gaucher disease (frequent mutations on GBA gene).

By CGC Genetics in Portugal.

GBA
Specificity
100 %
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 %
Gaucher disease.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease via the GBA Gene.

By PreventionGenetics PreventionGenetics in United States.

GBA
Specificity
100 %
Genes
100 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GNPTAB, GLB1, RAF1, CTSA, GUSB, GALNS, GBA, BRAF, DHCR7, HRAS, IDUA, KRAS, LIPA, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PARK7, PINK1, PRKN, GBA, PLA2G6, MAPT, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, RAB39B, TAF1, FBXO7, SLC6A3, VPS35, DNAJC6
Specificity
6 %
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 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
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 %
Ashkenazi panel (advanced).

By Centogene AG - the Rare Disease Company in Germany.

BCKDHB, CLRN1, PCDH15, DLD, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, NEB, MCOLN1, ABCC8
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 %
Gaucher disease.

By Centogene AG - the Rare Disease Company in Germany.

GBA
Specificity
100 %
Genes
100 %
Parkinsons disease panel.

By Centogene AG - the Rare Disease Company in Germany.

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Parkinson Syndrome, autosomal dominant Panel.

By CeGaT GmbH in Germany.

HTRA2, GBA, LRRK2, SNCA, VPS35, EIF4G1, DNAJC13, CHCHD2, PRKAR1B, RAB29
Specificity
10 %
Genes
100 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Single gene testing GBA.

By CeGaT GmbH in Germany.

GBA
Specificity
100 %
Genes
100 %
Gaucher`s Disease.

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

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease (GBA).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GBA
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 %
Gaucher disease, GBA sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA in United States.

GBA
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 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Gaucher disease: GBA gene mutations analysis (N370S, L444P, 84GG, IVS2+1).

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

GBA
Specificity
100 %
Genes
100 %
Gaucher disease: GBA gene sequence analysis.

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

GBA
Specificity
100 %
Genes
100 %
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center in Netherlands.

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Gaucher Disease: GBA Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GBA
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 %
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 %
Gaucher Disease.

By Integrated Genetics Westborough Integrated Genetics in United States.

GBA
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 %
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 %
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 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
GBA.

By Fulgent Genetics Fulgent Genetics in United States.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease, DNA Mutation Analysis.

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

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease, DNA Mutation Analysis (NY).

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

GBA
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 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
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 %
Gaucher disease.

By Insight Medical Genetics in United States.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease type 2.

By Bioarray in Spain.

GBA
Specificity
100 %
Genes
100 %
Fetal Gaucher disease.

By Bioarray in Spain.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease - ophthalmoplegia - cardiovascular calcification.

By Bioarray in Spain.

GBA
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 %
GBA Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

GBA
Specificity
100 %
Genes
100 %
GAUCHER DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

GBA
Specificity
100 %
Genes
100 %
PARKINSON NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

HTRA2, COQ2, PARK7, PINK1, PRKN, GBA, PLA2G6, GCH1, LRRK2, SNCA, SYNJ1, ATP13A2, ATP6AP2, UCHL1, FBXO7, SLC6A3, VPS35, DNAJC6, EIF4G1
Specificity
6 %
Genes
100 %
Gaucher Disease Type 3, Sequencing GBA Gene.

By Reference Laboratory Genetics in Spain.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease Type 2 , Sequencing GBA Gene.

By Reference Laboratory Genetics in Spain.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease Type 1, Sequencing GBA Gene.

By Reference Laboratory Genetics in Spain.

GBA
Specificity
100 %
Genes
100 %
Gaucher Disease Type 1, Mutations (N370S, L444P, 84GG, IVS2+1) GBA Gene.

By Reference Laboratory Genetics in Spain.

GBA
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 %
Gaucher Disease: GBA gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

GBA
Specificity
100 %
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 %
Gaucher disease Type II: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease Type III: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease Type IIIC: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GBA
Specificity
100 %
Genes
100 %
Gaucher disease Type I: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GBA
Specificity
100 %
Genes
100 %
Perinatal lethal Gaucher disease: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GBA
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

Gaucher Disease, Perinatal Lethal Is also known as gaucher disease, collodion type;perinatal lethal gaucher disease.


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