L1CAM gene related symptoms and diseases
All the information presented here about the L1CAM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to L1CAM gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Spasticity | Common - Between 50% and 80% cases |
| Seizures | Common - Between 50% and 80% cases |
| Adducted thumb | Common - Between 50% and 80% cases |
| Agenesis of corpus callosum | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with L1CAM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hydrocephalus
- Hemiplegia/hemiparesis
- Spastic paraplegia
- Aqueductal stenosis
- Microcephaly
- Strabismus
- Global developmental delay
Not very common - Between 30% and 50% cases
- Cognitive impairment
And 67 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to L1CAM gene
Here you will find a list of rare diseases related to the L1CAM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MASA SYNDROME
Alternate names
MASA SYNDROME Is also known as spastic paraplegia 1, x-linked, thumb, congenital clasped, with mental retardation, gareis-mason syndrome, intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome, clasped thumb and mental retardation, spg1, mental retardation, aphasia, shufflin
Description
MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
Most common symptoms of MASA SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MASA SYNDROME
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS
Alternate names
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus, hsas1, hycx, aqueductal stenosis, x-linked, bickers-adams syndrome, x-linked acqueductal stenosis, xlas, hydrocephalus, x-linked, x-linked hydrocephalus with stenosis of aqueduct of sylvius, x-linked hsas, hsas
Description
Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
Most common symptoms of HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
Alternate names
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis
Most common symptoms of HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
- Intellectual disability
- Seizures
- Microcephaly
- Hypertelorism
- Nystagmus
More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
SOURCES: OMIM
X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS
Description
X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
Most common symptoms of X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Muscle weakness
More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS
X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1
Alternate names
X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1 Is also known as spg1
More info about X-LINKED COMPLICATED SPASTIC PARAPLEGIA TYPE 1
SOURCES: ORPHANET
Search interest in L1CAM
Potential gene panels for L1CAM gene
HSP, X-Linked Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, X-Linked Evaluation that also includes the following genes: L1CAM PLP1
More info about this panel United States.
HSP, Comprehensive Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panel United States.
HSP, Supplemental Sporadic Evaluation Panel
United States.
By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26
More info about this panel United States.
Syndromic Autism Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panel United States.
NGS XLID Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked hydrocephalus Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the L1CAM gene.
More info about this panel United States.
Hereditary Spastic Paraplegia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panel United States.
L1CAM Related Disorders - L1CAM Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the L1CAM gene.
More info about this panel United States.
Agenesis of the Corpus Callosum Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Agenesis of the Corpus Callosum that also includes the following genes: SLC12A6 MRPS16 ARX L1CAM
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
X-Linked Intellectual Disabilities Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-linked Intellectual Disabilities Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Hereditary Spastic Paraplegia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panel United States.
Comprehensive Hydrocephalus Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Hydrocephalus Panel that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel United States.
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
X-linked Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1
More info about this panel United States.
L1CAM deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the L1CAM gene.
More info about this panel United States.
L1CAM sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the L1CAM gene.
More info about this panel United States.
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 United States.
Autism/Intellectual Disability/Multiple Anomalies Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
IDNext Panel
United States.
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panel United States.
L1CAM. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the L1CAM gene.
More info about this panel Spain.
Hydrocephalus, X-linked (sequence analysis of L1CAM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the L1CAM gene.
More info about this panel Portugal.
Spastic Paraplegia 1 (sequence analysis of L1CAM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the L1CAM gene.
More info about this panel Portugal.
Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegia AR, X-linked (NGS panel for 33 genes) that also includes the following genes: SPG11 SPG7 TFG ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2
More info about this panel Portugal.
X-linked spastic paraplegia types 1 and 2, MASA, CRASH and Pelizaeus-Merbancher syndromes (sequence analysis of L1CAM and PLP1 genes) Panel
Portugal.
By CGC Genetics X-linked spastic paraplegia types 1 and 2, MASA, CRASH and Pelizaeus-Merbancher syndromes (sequence analysis of L1CAM and PLP1 genes) that also includes the following genes: L1CAM PLP1
More info about this panel Portugal.
Hereditary spastic paraplegia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panel Portugal.
Mental retardation, X-linked (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel Portugal.
Hydrocephalus, X-linked (deletions/duplications analysis of L1CAM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the L1CAM gene.
More info about this panel Portugal.
Hydrocephalus, X-linked (deletions/duplications analysis of L1CAM gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the L1CAM gene.
More info about this panel Portugal.
X-LINKED HYDROCEPHALUS - MASA SYNDROME Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the L1CAM gene.
More info about this panel India.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panel United States.
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panel United States.
L1 Syndrome via L1CAM Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the L1CAM gene.
More info about this panel United States.
Hydrocephalus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
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 Germany.
L1 syndrome (L1CAM) Panel
Czech Republic.
By DNA Diagnostics Laboratory University Hospital Ostrava
This panel specifically test the L1CAM gene.
More info about this panel Czech Republic.
SPG1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the L1CAM gene.
More info about this panel Germany.
MASA syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the L1CAM gene.
More info about this panel Germany.
Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the L1CAM gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Single gene testing L1CAM Panel
Germany.
By CeGaT GmbH
This panel specifically test the L1CAM gene.
More info about this panel Germany.
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2
More info about this panel Germany.
L1 cell adhesion molecule Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the L1CAM gene.
More info about this panel Germany.
Hereditary Spastic Paraplegia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panel Estonia.
CRASH syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the L1CAM gene.
More info about this panel Austria.
Hydrocephalus Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the L1CAM gene.
More info about this panel Austria.
MASA syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the L1CAM gene.
More info about this panel Austria.
Spastic paraplegia 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the L1CAM gene.
More info about this panel Austria.
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 Spain.
CRASH syndrome Panel
Slovakia.
By MedGene
This panel specifically test the L1CAM gene.
More info about this panel Slovakia.
Hydrocephalus Panel
Slovakia.
By MedGene
This panel specifically test the L1CAM gene.
More info about this panel Slovakia.
MASA syndrome Panel
Slovakia.
By MedGene
This panel specifically test the L1CAM gene.
More info about this panel Slovakia.
Spastic paraplegia 1 Panel
Slovakia.
By MedGene
This panel specifically test the L1CAM gene.
More info about this panel Slovakia.
Invitae Hereditary Spastic Paraplegia X-linked Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia X-linked Panel that also includes the following genes: SLC16A2 KDM5C ABCD1 L1CAM PLP1
More info about this panel United States.
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
United States.
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panel United States.
Hydrocephalus, X-linked: L1CAM gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the L1CAM gene.
More info about this panel Spain.
Hydrocephalus, X-linked: L1CAM gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the L1CAM gene.
More info about this panel Spain.
MASA syndrome: L1CAM gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the L1CAM gene.
More info about this panel Spain.
SPASTIC PARAPLEGIA A.R Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.R that also includes the following genes: SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART SPG21 ZFYVE26 FA2H AP5Z1
More info about this panel Spain.
Hydrocephalus Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hydrocephalus that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel Spain.
X-Linked Hydrocephalus with Aqueductal Stenosis: L1CAM Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the L1CAM gene.
More info about this panel United States.
X-Linked Hydrocephalus with Aqueductal Stenosis: L1CAM Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the L1CAM gene.
More info about this panel United States.
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
Autism Spectrum Disorders: Tier 2 Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panel United States.
Hereditary Neuropathies: Sequencing Panel Panel
United States.
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 United States.
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel that also includes the following genes: SCN1A BRAF SLC2A1 SLC9A6 SMARCB1 SMC1A KDM5C CDKL5 TCF4 MED12
More info about this panel United States.
Hereditary Neuropathies: Deletion/Duplication Panel Panel
United States.
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 United States.
Autism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Spastic Paraplegia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panel United States.
XLID NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panel United States.
L1CAM Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the L1CAM gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Hirschsprung Disease Panel Panel
Finland.
By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF
More info about this panel Finland.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panel Finland.
X-linked Intellectual Disability Panel Panel
Finland.
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panel Finland.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
Neuronal Migration Disorder Panel Panel
Finland.
By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18
More info about this panel Finland.
X-linked hydrocephalus with stenosis of aqueduct of Sylvius Panel
Spain.
By Bioarray
This panel specifically test the L1CAM gene.
More info about this panel Spain.
CRASH SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the L1CAM gene.
More info about this panel Spain.
X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the L1CAM gene.
More info about this panel Spain.
SPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) that also includes the following genes: ABCD1 L1CAM PLP1
More info about this panel Spain.
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS (X-LINKED HYDROCEPHALUS) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the L1CAM gene.
More info about this panel Spain.
SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panel Spain.
Partial Agenesis of Corpus Callosum , Sequencing L1CAM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the L1CAM gene.
More info about this panel Spain.
X-Linked Hydrocephalus , Sequencing L1CAM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the L1CAM gene.
More info about this panel Spain.
MASA Syndrome , Sequencing L1CAM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the L1CAM gene.
More info about this panel Spain.
X-Linked Hydrocephalus , Deletions-Duplications (MLPA) L1CAM Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the L1CAM gene.
More info about this panel Spain.
Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: ECE1 EDN3 EDNRB GDNF L1CAM RET
More info about this panel Spain.
Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26
More info about this panel Spain.
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel
Spain.
By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN
More info about this panel Spain.
Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Panel
Spain.
By Reference Laboratory Genetics Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes that also includes the following genes: CCDC88C L1CAM MPDZ
More info about this panel Spain.
Hereditary Spastic Paraplegia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2
More info about this panel Canada.
Syndromic Hirschsprung Disease: gene sequencing panel Panel
Canada.
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 Canada.
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