MMAB gene related symptoms and diseases
All the information presented here about the MMAB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MMAB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Neutropenia | Very Common - Between 80% and 100% cases |
| Decreased adenosylcobalamin | Very Common - Between 80% and 100% cases |
| Methylmalonic acidemia | Very Common - Between 80% and 100% cases |
| Hyperglycinemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MMAB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Homocystinuria
- Abnormality of the mitochondrion
- Methylmalonic aciduria
- Ketonuria
- Ketosis
- Abnormality of mitochondrial metabolism
- Hyperammonemia
- Pancytopenia
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MMAB gene
Here you will find a list of rare diseases related to the MMAB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB
Alternate names
VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb, methylmalonic acidemia, cblb type, methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type
Description
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).
Most common symptoms of VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB
Search interest in MMAB
Potential gene panels for MMAB 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 United States.
Methylmalonic Acidemia Deletion/Duplication Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Methylmalonic Acidemia Deletion/Duplication Panel that also includes the following genes: MMAA MMAB MMUT
More info about this panel United States.
Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) that also includes the following genes: MMAA MMAB MMUT
More info about this panel United States.
Methylmalonic Acidemia Panel Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories Methylmalonic Acidemia Panel Sequence Analysis that also includes the following genes: MMAA MMAB MMUT
More info about this panel United States.
MMAB Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MMAB gene.
More info about this panel United States.
MMAB Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MMAB gene.
More info about this panel United States.
MMAB Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MMAB gene.
More info about this panel United States.
MMAB Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the MMAB gene.
More info about this panel United States.
Cobalamin Metabolism Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Cobalamin Metabolism Panel (MitomeNGS) that also includes the following genes: TCN2 MMAA MMAB LMBRD1 MMACHC MMADHC MTR MTRR MMUT
More info about this panel United States.
Methylmalonic Acidemia Sequencing NextGen Panel Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: SUCLA2 TCN1 TCN2 CBS CD320 MCEE MMAA MMAB ACSF3 CBLIF
More info about this panel United States.
Methylmalonic Acidemia, cblB Type - MMAB Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the MMAB gene.
More info about this panel United States.
Methylmalonic Acidemia, cblB Type - MMAB Del/dup Analysis Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the MMAB gene.
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
MMAB Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the MMAB gene.
More info about this panel United States.
MMAB Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the MMAB gene.
More info about this panel United States.
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 United States.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel United States.
MMAB Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the MMAB gene.
More info about this panel United States.
MMAB-Related Methylmalonic Acidemia 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 MMAB gene.
More info about this panel Czech Republic.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel Netherlands.
MMAB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MMAB gene.
More info about this panel Spain.
MMAB. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MMAB gene.
More info about this panel Spain.
Methylmalonic aciduria cblB type (sequence analysis of MMAB gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MMAB gene.
More info about this panel Portugal.
Methylmalonic aciduria (NGS panel for 15 genes) Panel
Portugal.
By CGC Genetics Methylmalonic aciduria (NGS panel for 15 genes) that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel Portugal.
Methylmalonic aciduria Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital Methylmalonic aciduria that also includes the following genes: MMAA MMAB MMUT
More info about this panel India.
Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Methylmalonic Acidemia Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB MMADHC ACSF3 MLYCD ALDH6A1
More info about this panel United States.
Methylmalonic Acidemia, cblB type, via MMAB Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MMAB gene.
More info about this panel United States.
Hyperammonemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2
More info about this panel United States.
Organic Aciduria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3
More info about this panel United States.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
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.
Methylmalonic Acidemia Sequential Panel Panel
United States.
By FirmaLab Methylmalonic Acidemia Sequential Panel that also includes the following genes: MCEE MMAA MMAB MMACHC MMUT
More info about this panel United States.
Methylmalonic aciduria, cblB type (MMAB) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the MMAB gene.
More info about this panel Netherlands.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
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.
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 Germany.
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 Germany.
Methylmalonic aciduria cblB complementation type vitamin B12-responsive Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MMAB gene.
More info about this panel Germany.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Methylmalonic Aciduria and Homocystinuria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel Estonia.
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.
Invitae Organic Acidemias Panel Panel
United States.
By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1
More info about this panel United States.
Invitae Methylmalonic Acidemia Panel Panel
United States.
By Invitae Invitae Methylmalonic Acidemia Panel that also includes the following genes: SUCLA2 SUCLG1 MCEE MMAA MMAB MMADHC MMUT
More info about this panel United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Elevated C3 Panel Panel
United States.
By Invitae Invitae Elevated C3 Panel that also includes the following genes: BTD MMAA MMAB MMACHC MMADHC HLCS MMUT PCCA PCCB
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Methylmalonic acidemia type cb1B: MMAB gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MMAB gene.
More info about this panel Spain.
ORGANIC ACIDEMIAS Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ORGANIC ACIDEMIAS that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT
More info about this panel Spain.
Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Gene Sequencing that also includes the following genes: MMAA MMAB
More info about this panel United States.
Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Genes Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Genes Deletion/Duplication that also includes the following genes: MMAA MMAB
More info about this panel United States.
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 United States.
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 United States.
Methylmalonic Acidemia, MMAB-Related (MMAB) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the MMAB gene.
More info about this panel United States.
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 United States.
Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cobalamin Homocysteine Methionine Deficiency NGS Panel that also includes the following genes: TCN2 CBS CD320 MCEE MMAA MMAB LMBRD1 MMACHC CTH MMADHC
More info about this panel United States.
Methylmalonic Acid Metabolism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Methylmalonic Acid Metabolism NGS Panel that also includes the following genes: SUCLA2 SUCLG1 TCN2 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
MMAB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MMAB gene.
More info about this panel United States.
Hyperammonemia and Urea Cycle Disorder Panel Panel
Finland.
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panel Finland.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
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 Finland.
TRANSCOBALAMIN II DEFICIENCY Panel
Spain.
By Bioarray
This panel specifically test the MMAB gene.
More info about this panel Spain.
METHYLMALONIC ACIDURIA, cblB TYPE Panel
Spain.
By Bioarray
This panel specifically test the MMAB gene.
More info about this panel Spain.
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
More info about this panel United States.
METHYLMALONIC ACIDEMIA, VITAMIN B12-RESPONSIVE Panel
Spain.
By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA, VITAMIN B12-RESPONSIVE that also includes the following genes: MMAA MMAB
More info about this panel Spain.
METHYLMALONIC ACIDEMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL METHYLMALONIC ACIDEMIA: NGS PANEL that also includes the following genes: SUCLA2 SUCLG1 CD320 MCEE MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3
More info about this panel Spain.
Methylmalonic aciduria cblB type Panel
Brazil.
By Genera
This panel specifically test the MMAB gene.
More info about this panel Brazil.
Methylmalonic Acidemia, Vitamin B12 Sensitive, Type Cblb, Sequencing MMAB Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MMAB gene.
More info about this panel Spain.
Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: MMAA MMAB LMBRD1 MMACHC MMADHC ABCD4 MMUT
More info about this panel Spain.
Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes Panel
Spain.
By Reference Laboratory Genetics Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT
More info about this panel Spain.
Methylmalonic acidemia: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Methylmalonic acidemia: gene sequencing panel (RAPID testing) that also includes the following genes: TCN2 CD320 MMAA MMAB LMBRD1 MMACHC MMADHC ACSF3 HCFC1 ABCD4
More info about this panel Canada.
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 Canada.
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 Canada.
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 Canada.
cblB complement type Vitamin B-12 responsive methylmalonic aciduria (due to defect in synthesis of adenosylcobalamin): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the MMAB gene.
More info about this panel Canada.
Isolated Methylmalonic Acidemia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Isolated Methylmalonic Acidemia: gene sequencing panel that also includes the following genes: MCEE MMAA MMAB MMADHC MMUT
More info about this panel Canada.
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