HEXA gene related symptoms and diseases

All the information presented here about the HEXA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HEXA gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Decerebrate rigidity Uncommon - Between 30% and 50% cases
EMG abnormality Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HEXA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Sensory neuropathy
  • Depressivity
  • Behavioral abnormality
  • Gait disturbance
  • Incoordination
  • Peripheral neuropathy
  • Ataxia
  • Rarely - Less than 30% cases

  • Psychotic episodes

And 134 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HEXA gene

Here you will find a list of rare diseases related to the HEXA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL DYSAUTONOMIA


Alternate names

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial, dys, hereditary sensory and autonomic neuropathy type iii, hereditary sensory and autonomic neuropathy type 3, hsan3, hsan iii, fd, riley-day syndrome

Description

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

Most common symptoms of FAMILIAL DYSAUTONOMIA

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


More info about FAMILIAL DYSAUTONOMIA

SOURCES: OMIM ORPHANET MESH

TAY-SACHS DISEASE, B1 VARIANT


Alternate names

TAY-SACHS DISEASE, B1 VARIANT Is also known as gm2 gangliosidosis, b1 variant, hexosaminidase a deficiency, b1 variant


More info about TAY-SACHS DISEASE, B1 VARIANT

SOURCES: ORPHANET

TAY-SACHS DISEASE, B VARIANT, ADULT FORM


Alternate names

TAY-SACHS DISEASE, B VARIANT, ADULT FORM Is also known as hexosaminidase a deficiency, adult form, gm2 gangliosidosis, b variant, adult form


More info about TAY-SACHS DISEASE, B VARIANT, ADULT FORM

SOURCES: ORPHANET

TAY-SACHS DISEASE; TSD


Alternate names

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis, gm2-gangliosidosis, type i, hexosaminidase a deficiency, hexa deficiency

Description

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

Most common symptoms of TAY-SACHS DISEASE; TSD

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


More info about TAY-SACHS DISEASE; TSD

SOURCES: OMIM ORPHANET

TAY-SACHS DISEASE, B VARIANT, INFANTILE FORM


Alternate names

TAY-SACHS DISEASE, B VARIANT, INFANTILE FORM Is also known as hexosaminidase a deficiency, infantile form, gm2 gangliosidosis, b variant, infantile form


More info about TAY-SACHS DISEASE, B VARIANT, INFANTILE FORM

SOURCES: ORPHANET

TAY-SACHS DISEASE, B VARIANT, JUVENILE FORM


Alternate names

TAY-SACHS DISEASE, B VARIANT, JUVENILE FORM Is also known as gm2 gangliosidosis, b variant, juvenile form, hexosaminidase a deficiency, juvenile form


More info about TAY-SACHS DISEASE, B VARIANT, JUVENILE FORM

SOURCES: ORPHANET


Potential gene panels for HEXA gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Ashkenazic Genetic Disease Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Panel that also includes the following genes: CFTR HEXA ELP1 ASPA

More info about this panel

HEXA Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HEXA gene.

More info about this panel

HEXA Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HEXA gene.

More info about this panel

HEXA Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HEXA gene.

More info about this panel

Tay - Sachs Disease Ashkenazic Mutation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HEXA gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

More info about this panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1

More info about this panel

GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1

More info about this panel

Lysosomal Storage Disease Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1

More info about this panel

Tay-Sachs disease Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the HEXA gene.

More info about this panel

Ashkenazi Jewish Carrier Screening Panel Panel

United States.

By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN

More info about this panel

Test for Hexosaminidase A Deficiency Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the HEXA gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Lysosomal Storage Disease Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Tay-Sachs disease Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease (HEXA) Sequencing and 7.6kb Deletion Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the HEXA gene.

More info about this panel

Ashkenazi Jewish Diseases, 16 Genes Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Tay-Sachs Disease (HEXA), 7 Variants Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the HEXA gene.

More info about this panel

HEXA Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs disease Panel

Czech Republic.

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

This panel specifically test the HEXA gene.

More info about this panel

HEXA mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the HEXA gene.

More info about this panel

HEXA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HEXA gene.

More info about this panel

HEXA. Detection of the mutations c.1274_1277dupTATC, c.1421 1G>C, c.1073 1G>A, p.Gly269Ser, p.Arg247Trp and p.Arg249Trpby sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HEXA gene.

More info about this panel

Hexosaminidase A Deficiency Panel

Portugal.

By CGC Genetics

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs disease (sequence analysis of HEXA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HEXA gene.

More info about this panel

Dystonia (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Tay-Sachs disease (deletion/duplication analysis of HEXA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HEXA gene.

More info about this panel

Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

Portugal.

By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1

More info about this panel

Tay-Sachs disease (deletion/duplication analysis of HEXA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs disease (TSD) /GM2 gangliosidosis variant B Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease via HEXA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HEXA gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Tay-Sachs Disease via the French Canadian Deletion in the HEXA Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HEXA gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Epileptic Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3

More info about this panel

Progressive Myoclonic Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Progressive Myoclonic Epilepsy that also includes the following genes: SGCE CACNB4 NPC2 CASR EFHC1 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3

More info about this panel

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2

More info about this panel

Epilepsy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Hexosaminidase A Deficiency Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the HEXA gene.

More info about this panel

Tay Sachs Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the HEXA gene.

More info about this panel

Ashkenazi panel (basic) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (basic) that also includes the following genes: BLM MCOLN1 FANCC HEXA ELP1 ASPA

More info about this panel

Ashkenazi panel (advanced) Panel

Germany.

By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA

More info about this panel

Tay-Sachs disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HEXA gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Tay-Sachs disease Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the HEXA gene.

More info about this panel

Lysosomal Disorders Panel Panel

Germany.

By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel

Spinal Muscular Atrophy Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

More info about this panel

Lysosomal Disorders Panel Panel

Germany.

By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Spinal Muscular Atrophy (SMA) Panel Panel

Germany.

By CeGaT GmbH Spinal Muscular Atrophy (SMA) Panel that also includes the following genes: SCO2 UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2 EXOSC3

More info about this panel

Single gene testing HEXA Panel

Germany.

By CeGaT GmbH

This panel specifically test the HEXA gene.

More info about this panel

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR

More info about this panel

Lysosomal Storage Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Tay-Sachs syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the HEXA gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Tay-Sachs syndrome Panel

Slovakia.

By MedGene

This panel specifically test the HEXA gene.

More info about this panel

Invitae Tay-Sachs Disease Test Panel

United States.

By Invitae

This panel specifically test the HEXA gene.

More info about this panel

Invitae GM2 Gangliosidosis Panel Panel

United States.

By Invitae Invitae GM2 Gangliosidosis Panel that also includes the following genes: GM2A HEXA HEXB

More info about this panel

Invitae Comprehensive Lysosomal Storage Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5

More info about this panel

Tay-Sachs disease: HEXA gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs disease: HEXA gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease: HEXA Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease: HEXA Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the HEXA gene.

More info about this panel

Lysosomal Storage Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

ACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

ACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA

More info about this panel

Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

Inheritest NGS, Society Guided Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Society Guided Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC FMR1 GBA HBB HEXA

More info about this panel

Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS

More info about this panel

Tay-Sachs Mutation Analysis Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the HEXA gene.

More info about this panel

Ashkenazi Jewish Carrier Testing Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

HEXA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HEXA gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

HEXA Mutation Analysis, Gene Sequencing Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the HEXA gene.

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

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Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

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Spinal Muscular Atrophy Panel Panel

Finland.

By Blueprint Genetics Spinal Muscular Atrophy Panel that also includes the following genes: SCO2 SMN1 SMN2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2

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Tay-Sachs disease Panel

Spain.

By Bioarray

This panel specifically test the HEXA gene.

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Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

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TAY-SACHS DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HEXA gene.

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ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATROPHY, SPINAL MUSCULAR SMN-NEGATIVE NGS PANEL that also includes the following genes: SCO2 TBCE UBA1 VAPB VRK1 SLC5A7 CHCHD10 BSCL2 EXOSC8 BICD2

More info about this panel

Tay-Sachs Disease, Sequencing HEXA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs Disease, Frequent Mutations HEXA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HEXA gene.

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Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

Spain.

By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5

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GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene Panel

Spain.

By Reference Laboratory Genetics GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene that also includes the following genes: GLB1 GM2A HEXA HEXB

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Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

Spain.

By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1

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Tay-Sachs: HexA gene sequencing Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the HEXA gene.

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planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

More info about this panel

planTrue ACOG & ACMG Screen Panel

United States.

By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB

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planTrue Standard Panel

United States.

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

planTrue Jewish Screen Panel

United States.

By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

GM2-gangliosidosis: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the HEXA gene.

More info about this panel

Tay-Sachs disease: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the HEXA gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Hexosaminidase A pseudodeficiency: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the HEXA gene.

More info about this panel


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