Methylmalonic Aciduria, Cbla 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 cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. 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 ), cblF (OMIM ), and cblJ (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Methylmalonic Aciduria, Cbla Type

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Nevus
  • Feeding difficulties
  • Hepatomegaly
And another 22 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Methylmalonic Aciduria, Cbla Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Methylmalonic Acidemia Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories in United States.

MMAB, MMAA, MUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories in United States.

MMAB, MMAA, MUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Panel Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMAB, MMAA, MUT
Specificity
34 %
Genes
100 %
MMAA Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMAA
Specificity
100 %
Genes
100 %
MMAA Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMAA
Specificity
100 %
Genes
100 %
MMAA Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MMAA
Specificity
100 %
Genes
100 %
MMAA Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MMAA
Specificity
100 %
Genes
100 %
Cobalamin Metabolism Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

MMACHC, MTR, MTRR, MMADHC, LMBRD1, TCN2, MMAB, MMAA, MUT
Specificity
12 %
Genes
100 %
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MTHFR, MTR, ACSF3, SUCLA2, TCN2, GIF, MCEE, MMAB, MMAA, IVD, CBS, CD320, TCN1
Specificity
8 %
Genes
100 %
Methylmalonic Acidemia, cblA Type - MMAA Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MMAA
Specificity
100 %
Genes
100 %
Methylmalonic Acidemia, cblA Type - MMAA Del/dup analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

MMAA
Specificity
100 %
Genes
100 %
Cobalamin Metabolism Disorder.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MMACHC, MTR, MTRR, ACSF3, MMADHC, LMBRD1, TCN2, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, IVD, CBS, ABCD4, CD320
Specificity
6 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
MMAA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MMAA
Specificity
100 %
Genes
100 %
MMAA Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MMAA
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, CBS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
MMAA Gene Sequencing.

By GeneDx in United States.

MMAA
Specificity
100 %
Genes
100 %
MMAA-Related Methylmalonic Acidemia.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

MMAA
Specificity
100 %
Genes
100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
MMAA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MMAA
Specificity
100 %
Genes
100 %
MMAA. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MMAA
Specificity
100 %
Genes
100 %
Methylmalonic aciduria, vitamin B12-responsive (sequence analysis of MMAA gene).

By CGC Genetics in Portugal.

MMAA
Specificity
100 %
Genes
100 %
Methylmalonic aciduria (NGS panel for 15 genes).

By CGC Genetics in Portugal.

MMACHC, MTR, MTRR, ACSF3, SUCLA2, MMADHC, LMBRD1, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, ABCD4, CD320
Specificity
7 %
Genes
100 %
Methylmalonic aciduria.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

MMAB, MMAA, MUT
Specificity
34 %
Genes
100 %
Methylmalonic Acidemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACSF3, ALDH6A1, SUCLA2, MMADHC, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, CD320
Specificity
10 %
Genes
100 %
Methylmalonic Acidemia, cblA type, via the MMAA Gene.

By PreventionGenetics PreventionGenetics in United States.

MMAA
Specificity
100 %
Genes
100 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ARG1, HLCS, MMACHC, CPS1, CPT2, SLC25A13, HADHA, TMEM70, HADHB, GLUD1, PCCB, PCCA, HMGCS2, OTC, MMADHC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Organic Aciduria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MCCC1, MCCC2, ACAT1, HLCS, BCKDHA, BCKDHB, MMACHC, DLD, ACSF3, ALDH6A1, IDH2, PCCB, PCCA, D2HGDH, MMADHC, MCEE, MMAB, MMAA, MUT, DBT , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, ALDH6A1, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Methylmalonic Acidemia Sequential Panel.

By FirmaLab in United States.

MMACHC, MCEE, MMAB, MMAA, MUT
Specificity
20 %
Genes
100 %
Methylmalonic aciduria, cblA type (MMAA).

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

MMAA
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Methylmalonic aciduria cbIA type.

By Centogene AG - the Rare Disease Company in Germany.

MMAA
Specificity
100 %
Genes
100 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Methylmalonic Aciduria and Homocystinuria.

By Asper Biogene Asper Biogene LLC in Estonia.

MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, IVD, CBS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Organic Acidemias Panel.

By Invitae in United States.

MCCC1, MCCC2, ACAT1, FBP1, HLCS, BTD, AUH, BCKDHA, BCKDHB, MMACHC, HSD17B10, POLG, OPA3, ACSF3, TMEM70, HMGCL, IDH2, SUCLA2, ACAD8, DNAJC19 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Invitae Methylmalonic Acidemia Panel.

By Invitae in United States.

SUCLA2, MMADHC, MCEE, MMAB, MMAA, MUT, SUCLG1
Specificity
15 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Elevated C3 Panel.

By Invitae in United States.

HLCS, BTD, MMACHC, PCCB, PCCA, MMADHC, MMAB, MMAA, MUT
Specificity
12 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Methylmalonic acidemia type cb1A: MMAA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MMAA
Specificity
100 %
Genes
100 %
ORGANIC ACIDEMIAS.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCB, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
7 %
Genes
100 %
Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MMAB, MMAA
Specificity
50 %
Genes
100 %
Methylmalonic Aciduria (Cbl A/Cbl B): MMAA and MMAB Genes Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MMAB, MMAA
Specificity
50 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Methylmalonic Acidemia, MMAA-Related (MMAA).

By Integrated Genetics Westborough Integrated Genetics in United States.

MMAA
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Cobalamin Homocysteine Methionine Deficiency NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, MMACHC, MTR, MTRR, ALDH6A1, MMADHC, LMBRD1, TCN2, MCEE, MMAB, MMAA, MUT, CBS, AHCY, GNMT, CD320, MAT1A, CTH, ADK, FOLH1
Specificity
5 %
Genes
100 %
Methylmalonic Acid Metabolism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMACHC, ACSF3, ALDH6A1, SUCLA2, MMADHC, LMBRD1, TCN2, MCEE, MMAB, MMAA, MUT, SUCLG1, CD320
Specificity
8 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
MMAA.

By Fulgent Genetics Fulgent Genetics in United States.

MMAA
Specificity
100 %
Genes
100 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, PC, ARG1, HLCS, BCKDHA, BCKDHB, MMACHC, CPS1, CPT2, DLD, SLC25A13, HADHA, TMEM70, HMGCL, SUCLA2, HADHB , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

MTHFR, MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, BCS1L, MMACHC, AMN, MTR, MTRR, DLD, ACSF3, HMGCL, IDH2, ACADSB, PCCB, PCCA, D2HGDH, MMADHC , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
METHYLMALONIC ACIDURIA, cblA TYPE.

By Bioarray in Spain.

MMAA
Specificity
100 %
Genes
100 %
METHYLMALONIC ACIDURIA, cblB TYPE.

By Bioarray in Spain.

MMAA
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
METHYLMALONIC ACIDEMIA, VITAMIN B12-RESPONSIVE.

By Laboratorio de Genetica Clinica SL in Spain.

MMAB, MMAA
Specificity
50 %
Genes
100 %
METHYLMALONIC ACIDEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, ACSF3, SUCLA2, MMADHC, LMBRD1, MCEE, MMAB, MMAA, MUT, MLYCD, SUCLG1, ABCD4, HCFC1, CD320
Specificity
8 %
Genes
100 %
Methylmalonic aciduria, vitamin B12-responsive.

By Genera in Brazil.

MMAA
Specificity
100 %
Genes
100 %
Methylmalonic Acidemia , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

MMACHC, MMADHC, LMBRD1, MMAB, MMAA, MUT, ABCD4
Specificity
15 %
Genes
100 %
Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes.

By Reference Laboratory Genetics in Spain.

MCCC1, MCCC2, ACAT1, BCKDHA, BCKDHB, MMACHC, HMGCL, PCCA, MMAB, MMAA, MUT, DBT, IVD, GCDH
Specificity
8 %
Genes
100 %
Methylmalonic acidemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MMACHC, ACSF3, MMADHC, LMBRD1, TCN2, MMAB, MMAA, MUT, ABCD4, HCFC1, CD320
Specificity
10 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Vitamin B-12 responsive methylmalonic aciduria: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MMAA
Specificity
100 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %
Isolated Methylmalonic Acidemia: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MMADHC, MCEE, MMAB, MMAA, MUT
Specificity
20 %
Genes
100 %

Alternate names

Methylmalonic Aciduria, Cbla Type Is also known as methylmalonic acidemia, cbla type, methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type;vitamin b12-responsive methylmalonic aciduria type cbla.


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