Spinal Muscular Atrophy, Type Iii; Sma3

Description

SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1 ), II (SMA2 ), III (SMA3), and IV (OMIM ), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by Fraidakis et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinal Muscular Atrophy, Type Iii; Sma3

  • Muscle weakness
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Muscular dystrophy
  • Pruritus
  • Limb muscle weakness
  • Lower limb muscle weakness
  • Muscle cramps
  • Fasciculations
  • EMG abnormality
And another 11 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Spinal Muscular Atrophy, Type Iii; Sma3 have a estimated incidence of 1.1 per 100k worldwide.


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Spinal Muscular Atrophy, Type Iii; Sma3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spinal Muscular Atrophy Carrier Test.

By Athena Diagnostics Inc in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMA Plus (Reflexive).

By Athena Diagnostics Inc in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMN DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy Diagnostic Test.

By Athena Diagnostics Inc in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy (SMA) MLPA.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy (SMN1 and SMN2).

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Test for Spinal Muscular Atrophy (SMN2).

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SMN2
Specificity
100 %
Genes
34 %
DNA Analysis for Spinal Muscular Atrophy.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

SMN2
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SPINAL MUSCULAR ATROPHY.

By Molecular and Biochemical Genetics Laboratory Dayton Children's Hospital in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy (SMA) Copy Number Analysis, Fetal.

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

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy (SMA) Copy Number Analysis.

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

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMN1, SMN2. Detection of alterations in SMN1 and SMN2 genes.

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

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal muscular atrophy, type III (sequence analysis of SMN2 gene).

By CGC Genetics in Portugal.

SMN2
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy via MLPA of SMN1 and SMN2.

By PreventionGenetics PreventionGenetics in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal muscular atrophy (SMN2).

By Institute of Human Genetics Cologne University in Germany.

SMN2
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy (SMN2).

By MGZ Medical Genetics Center in Germany.

SMN2
Specificity
100 %
Genes
34 %
Spinal muscular atrophy.

By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy.

By GeneTech ATS GeneTech Private Limited in India.

SMN2
Specificity
100 %
Genes
34 %
Spinal muscular atrophy (SMA), type III.

By Centogene AG - the Rare Disease Company in Germany.

SMN2
Specificity
100 %
Genes
34 %
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
67 %
Spinal Muscular Atrophy.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
2 %
Genes
67 %
Invitae Hereditary Motor Neuropathy Panel.

By Invitae in United States.

ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
Invitae Spinal Muscular Atrophy Panel.

By Invitae in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMA Diagnostic Test.

By Quest Diagnostics Nichols Institute Chantilly in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMA Carrier Screen.

By Quest Diagnostics Nichols Institute Chantilly in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMA Carrier Screen.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
SMA Diagnostic Test.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Spinal Muscular Atrophy Panel.

By Blueprint Genetics in Finland.

ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
67 %
Spinal muscular atrophy.

By Genomic Engenharia Molecular in Brazil.

SMN1, SMN2
Specificity
100 %
Genes
67 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
67 %
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, GARS, REEP1, SCO2, SMN1, TRPV4, HSPB8, SMN2, UBA1, BSCL2, DCTN1, VAPB, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7
Specificity
11 %
Genes
67 %
SMN1 Deletion Analysis.

By Baylor Miraca Genetics Laboratories in United States.

SMN1
Specificity
100 %
Genes
34 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
34 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
34 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, CFTR, DMD, SMN1, HBA1, HBA2
Specificity
15 %
Genes
34 %
GeneAware Basic Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, CFTR, SMN1, HBA1, HBA2
Specificity
20 %
Genes
34 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
8 %
Genes
34 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

ATP7B, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC, GBA, BLM , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DMD, SMN1, HBA1, HBA2, MCOLN1
Specificity
7 %
Genes
34 %
Spinal Muscular Atrophy (SMA).

By Center for Human Genetics, Inc in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Pathology Laboratory Ohio State University in United States.

SMN1
Specificity
100 %
Genes
34 %
Test for Spinal Muscular Atrophy (SMN1).

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy - I, II, and III.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1) Test.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1).

By Molecular Genetics Rabin Medical Center in Israel.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1).

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal and Bulabr Muscular Atrophy.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy.

By Human Genetics University Hospital Bern in Switzerland.

SMN1
Specificity
100 %
Genes
34 %
Survival motor neuron 1 (SMN1) and 2 (SMN2) gene dosage evaluation by MLPA analysis.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy (SMA, sequence analysis of 7 and 8 exons of SMN1 gene).

By CGC Genetics in Portugal.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy (SMA, deletion/duplication analysis of SMN1 gene).

By CGC Genetics in Portugal.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy ( SMA ).

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

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy (SMN1).

By Institute of Human Genetics Cologne University in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1).

By MGZ Medical Genetics Center in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMN1).

By Bioscientia GmbH Center for Human Genetics in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By GeneTech ATS GeneTech Private Limited in India.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy (SMA).

By Centogene AG - the Rare Disease Company in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy Type 1-3.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

SMN1
Specificity
100 %
Genes
34 %
Test for Spinal Muscular Atrophy (SMN1).

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

SMN1
Specificity
100 %
Genes
34 %
Test for Spinal Muscular Atrophy (SMN1).

By Genetiks Genetic Diagnosis and Research Center Genetic Diagnosis and Research Center in Turkey.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy 1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy 1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SMN1
Specificity
100 %
Genes
34 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
SMA, SMN1 and SMN2 del/dup.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

SMN1
Specificity
100 %
Genes
34 %
SMA, SMN1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

SMN1
Specificity
100 %
Genes
34 %
Proximal spinal muscular atrophy (SMN1).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy 1-3.

By Praxis fuer Humangenetik Wien in Austria.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (MLPA`s).

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

SMN1
Specificity
100 %
Genes
34 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
34 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
34 %
Spinal muscular atrophy 1-3.

By MedGene in Slovakia.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy: SMN1 gene common deletion analysis.

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

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy: SMN1 gene sequence analysis.

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

SMN1
Specificity
100 %
Genes
34 %
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DMPK, SMN1, SNRPN, MEG3
Specificity
25 %
Genes
34 %
Spinal Muscular Atrophy.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMN1
Specificity
100 %
Genes
34 %
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
34 %
Spinal Muscular Atrophy: Carrier Screen.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMN1
Specificity
100 %
Genes
34 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
34 %
ACOG/ACMG Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
10 %
Genes
34 %
ACOG/ACMG Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
10 %
Genes
34 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, FKTN, NEB, MCOLN1, ABCC8, TMEM216
Specificity
5 %
Genes
34 %
Inheritest NGS, Society Guided Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, HBB, SMPD1, HEXA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, MCOLN1
Specificity
9 %
Genes
34 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ATP7B, BCKDHA, BCKDHB, CPT2, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAH, G6PC, HEXA, GALT, PMM2, BBS2, ASPA, ELP1, CFTR, FANCC , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Spinal Muscular Atrophy (SMN1) Carrier Screen.

By Integrated Genetics Westborough Integrated Genetics in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy (SMA).

By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory in United States.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy.

By Insight Medical Genetics in United States.

SMN1
Specificity
100 %
Genes
34 %
Proximal spinal muscular atrophy type 1.

By Bioarray in Spain.

SMN1
Specificity
100 %
Genes
34 %
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
34 %
Mutation analysis for Spinal muscular atrophy.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

SMN1
Specificity
100 %
Genes
34 %
ATROPHY, SPINAL MUSCULAR (WERDNIG-HOFFMANN DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy Type 3 , Sequencing SMN1 Gene.

By Reference Laboratory Genetics in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy Type 1 , Sequencing SMN1 Gene.

By Reference Laboratory Genetics in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy Type 4 , Sequencing SMN1 Gene.

By Reference Laboratory Genetics in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy Type 2 , Sequencing SMN1 Gene.

By Reference Laboratory Genetics in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal Muscular Atrophy , Deletions-Duplications (MLPA) SMN1 Gene.

By Reference Laboratory Genetics in Spain.

SMN1
Specificity
100 %
Genes
34 %
Spinal muscular atrophy, autosomal-recessive.

By Labor Dr. Wisplinghoff in Germany.

SMN1
Specificity
100 %
Genes
34 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
34 %
planTrue ACOG & ACMG Screen.

By True Health Diagnostics in United States.

HBB, SMPD1, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, HBA2, MCOLN1
Specificity
8 %
Genes
34 %
planTrue Standard.

By True Health Diagnostics in United States.

BCKDHB, HBB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, HBA1, FKTN, HBA2, NEB , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
planTrue Basic.

By True Health Diagnostics in United States.

CFTR, DMD, SMN1
Specificity
34 %
Genes
34 %
planTrue Jewish Screen.

By True Health Diagnostics in United States.

BCKDHB, CLRN1, PCDH15, DLD, SMPD1, G6PC, HEXA, HEXB, ASPA, ELP1, CFTR, FANCC, GBA, BLM, SMN1, NEB, MCOLN1, ABCC8, TMEM216
Specificity
6 %
Genes
34 %
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
34 %

Alternate names

Spinal Muscular Atrophy, Type Iii; Sma3 Is also known as sma iii, muscular atrophy, juvenile, kugelberg-welander syndrome;kws, spinal muscular atrophy, mild childhood and adolescent form;juvenile spinal muscular atrophy; kugelberg-welander disease; sma type 3; sma type iii; sma-iii; sma3.


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