MCOLN1 gene related symptoms and diseases

All the information presented here about the MCOLN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MCOLN1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases
Developmental stagnation Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Corneal opacity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCOLN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of ganglioside metabolism
  • Photophobia
  • Coarse facial features
  • Abnormality of mucopolysaccharide metabolism
  • Hyperreflexia
  • Muscular hypotonia
  • Strabismus
  • Nystagmus

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MCOLN1 gene

Here you will find a list of rare diseases related to the MCOLN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MUCOLIPIDOSIS TYPE IV


Description

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Most common symptoms of MUCOLIPIDOSIS TYPE IV

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


More info about MUCOLIPIDOSIS TYPE IV

SOURCES: ORPHANET

MUCOLIPIDOSIS IV; ML4


Alternate names

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis

Description

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

Most common symptoms of MUCOLIPIDOSIS IV; ML4

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


More info about MUCOLIPIDOSIS IV; ML4

SOURCES: OMIM


Potential gene panels for MCOLN1 gene

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

mucolipidosis type IV Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the MCOLN1 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 Mucolipidosis IV Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the MCOLN1 gene.

More info about this panel

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Mucolipidosis IV Panel

United States.

By Molecular Genetics Columbia University

This panel specifically test the MCOLN1 gene.

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

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

Mucolipidosis Type IV (MCOLN1), 2 Variants Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the MCOLN1 gene.

More info about this panel

MCOLN1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the MCOLN1 gene.

More info about this panel

Mucolipidosis type IV (sequence analysis of MCOLN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MCOLN1 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

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

Mucolipidosis Type IV via MCOLN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MCOLN1 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

Mucopolysaccharidosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Mucopolysaccharidosis Deletion / Duplication panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1

More info about this panel

Mucopolysaccharidosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Mucopolysaccharidosis Comprehensive panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1

More info about this panel

Mucopolysaccharidosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Mucopolysaccharidosis NGS panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1

More info about this panel

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

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

Mucolipidosis IV (MCOLN1) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the MCOLN1 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

Mucolipidosis IV Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MCOLN1 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

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

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

Single gene testing MCOLN1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MCOLN1 gene.

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

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

Invitae Mucolipidosis Panel Panel

United States.

By Invitae Invitae Mucolipidosis Panel that also includes the following genes: MCOLN1 GNPTG GNPTAB NEU1

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

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

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1

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

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

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

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

Mucolipidosis type IV Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the MCOLN1 gene.

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

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

MCOLN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCOLN1 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

Mucolipidosis Type IV Mutation Analysis Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the MCOLN1 gene.

More info about this panel

Mucolipidosis Type IV Mutation Analysis (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the MCOLN1 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

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

More info about this panel

Mucolipidosis Type IV , Sequencing MCOLN1 Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MCOLN1 gene.

More info about this panel

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

More info about this panel

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

More info about this panel

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

More info about this panel

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

Mucolipidosis IV: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MCOLN1 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

Mucolipidosis IV: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MCOLN1 gene.

More info about this panel


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