Charcot-marie-tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Charcot-marie-tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive Is also known as cmt2 with vocal cord paresis, autosomal recessive, charcot-marie-tooth disease, type 4a, axonal form, charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Charcot-marie-tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Recessive, Demyelinating. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, MTMR2, NDRG1 Specificity 13 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Close Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22 Specificity 7 % Genes 100 %
CMT Advanced Evaluation - Recessive. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1 Specificity 12 % Genes 100 %
GDAP1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). GDAP1 Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...) View the complete list with 1 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Close Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MTMR2, NDRG1, PMP22 Specificity 8 % Genes 100 %

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