ELP1 gene related symptoms and diseases
All the information presented here about the ELP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ELP1 gene
Symptoms // Phenotype | % Cases |
---|---|
Vomiting | Very Common - Between 80% and 100% cases |
Scoliosis | Very Common - Between 80% and 100% cases |
Ataxia | Very Common - Between 80% and 100% cases |
Constipation | Very Common - Between 80% and 100% cases |
Pain | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ELP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal autonomic nervous system physiology
- Heterochromia iridis
- Nausea and vomiting
- Diarrhea
Not very common - Between 30% and 50% cases
- Seizures
- Sensorineural hearing impairment
- Spasticity
- Feeding difficulties
And 107 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ELP1 gene
Here you will find a list of rare diseases related to the ELP1. 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
HIRSCHSPRUNG DISEASE
Alternate names
HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Most common symptoms of HIRSCHSPRUNG DISEASE
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about HIRSCHSPRUNG DISEASE
Search interest in ELP1
Potential gene panels for ELP1 gene
Ashkenazic Genetic Disease Panel Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Panel that also includes the following genes: CFTR HEXA ELP1 ASPA
More info about this panel![](/img/flags/United-states.png)
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) Panel
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By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) that also includes the following genes: SMPD1 FANCC GBA ELP1 ASPA
More info about this panel![](/img/flags/United-states.png)
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) Panel
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By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) that also includes the following genes: SMPD1 FANCC GBA ELP1 ASPA
More info about this panel![](/img/flags/United-states.png)
Familial Dysautonomia Ashkenazic Mutation Panel Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
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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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
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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![](/img/flags/United-states.png)
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
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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![](/img/flags/United-states.png)
GeneAware ACMG/ACOG Panel Version 2 (Male) Panel
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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![](/img/flags/United-states.png)
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
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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![](/img/flags/United-states.png)
GeneAware ACMG/ACOG Panel Version 2 (Female) Panel
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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![](/img/flags/United-states.png)
Familial dysautonomia Panel
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By Center for Human Genetics, Inc
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screening Panel Panel
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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![](/img/flags/United-states.png)
Test for Familial Dysautonomia Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Familial Dysautonomia, DNA Analysis Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Familial Dysautonomia Panel
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By Molecular Genetics Columbia University
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Diseases, 16 Genes Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel
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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![](/img/flags/United-states.png)
Dysautonomia, Familial (IKBKAP), 2 Variants Panel
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By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
IKBKAP. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
IKBKAP. Detection of the mutation c.2204 6T>C by sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Riley-Day Syndrome (Familial Dysautonomia)(sequence analysis of IKBKAP gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
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By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Familial Dysautonomia via ELP1/IKBKAP Gene - Full Gene Sequencing Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Familial Dysautonomia via the ELP1/IKBKAP Gene - Targeted Variants Analysis Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 PRDM12 WNK1 CCT5 CLTCL1
More info about this panel![](/img/flags/United-states.png)
Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX
More info about this panel![](/img/flags/United-states.png)
Neuropathy Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Brain Malformations / Neuronal Migration Disorders Panel
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By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial Dysautonomia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ashkenazi panel (basic) Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ashkenazi panel (advanced) Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
HSAN3 Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
AllNeuro panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial Dysautonomia Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Familial dysautonomia Panel
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By Medical Genetics Institute Shaare Zedek Medical Center
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ashkenazi Jewish diseases Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Dysautonomia Panel
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By Praxis fuer Humangenetik Wien
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Family Prep Screen Panel
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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![](/img/flags/United-states.png)
Dysautonomia Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Invitae Comprehensive Neuropathies Panel Panel
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By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel![](/img/flags/United-states.png)
Invitae Hereditary Sensory and Autonomic Neuropathy Panel Panel
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By Invitae Invitae Hereditary Sensory and Autonomic Neuropathy Panel that also includes the following genes: SCN11A SCN9A DST ATL1 SPTLC1 SPTLC2 WNK1 ATL3 RETREG1 DNMT1
More info about this panel![](/img/flags/United-states.png)
Invitae Familial Dysautonomia Test Panel
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By Invitae
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Dysautonomia, Familial: IKBKAP gene mutations analysis (c.2204+6T>C y p.Arg696Pro) Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Dysautonomia, Familial: IKBKAP gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Neuropathies: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel
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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![](/img/flags/United-states.png)
ACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel
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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![](/img/flags/United-states.png)
ACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel
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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![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel
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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![](/img/flags/United-states.png)
Hereditary Neuropathies: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Society Guided Panel Panel
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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![](/img/flags/United-states.png)
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
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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![](/img/flags/United-states.png)
Familial Dysautonomia Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Ashkenazi Jewish Carrier Testing Panel
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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![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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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![](/img/flags/United-states.png)
Charcot Marie Tooth Disease Extended NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1
More info about this panel![](/img/flags/United-states.png)
IKBKAP Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Familial Dysautonomia Mutation Analysis Panel
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By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Familial Dysautonomia Mutation Analysis (NY) Panel
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By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/United-states.png)
Charcot-Marie-Tooth Neuropathy Panel Panel
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By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Familial dysautonomia Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Baby Genes Targeted Panel Panel
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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
More info about this panel![](/img/flags/United-states.png)
Familial Dysautonomia , Sequencing IKBKAP Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
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By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
planTrue Extended Panel
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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![](/img/flags/United-states.png)
planTrue ACOG & ACMG Screen Panel
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By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panel![](/img/flags/United-states.png)
planTrue Standard Panel
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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![](/img/flags/United-states.png)
planTrue Jewish Screen Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Tempus xO assay Panel
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By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel![](/img/flags/United-states.png)
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Familial dysautonomia: Full gene sequencing (Rapid testing) Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Syndromic Hirschsprung Disease: gene sequencing panel Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Familial Dysautonomia: gene sequencing Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ELP1 gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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