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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

MMAB Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MMAB gene.

More info about this panel

MMAB Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MMAB gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

MMAB Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the MMAB gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

AllNeuro panel Panel

Germany.

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

More info about this panel

CentoICU platinum plus Panel

Germany.

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

More info about this panel

New Born testing (CentoICU) Panel

Germany.

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

More info about this panel

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

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

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

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 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

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

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

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

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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

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

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

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

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

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

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

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

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

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

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

MMAB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MMAB gene.

More info about this panel

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

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

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

TRANSCOBALAMIN II DEFICIENCY Panel

Spain.

By Bioarray

This panel specifically test the MMAB gene.

More info about this panel

METHYLMALONIC ACIDURIA, cblB TYPE Panel

Spain.

By Bioarray

This panel specifically test the MMAB gene.

More info about this panel

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

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

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

Methylmalonic aciduria cblB type Panel

Brazil.

By Genera

This panel specifically test the MMAB gene.

More info about this panel

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

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

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

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

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

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

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

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


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