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PRPS1

Charcot-Marie-Tooth disease

December 6 2018

Recommended panel testing at Breda Genetics for this condition: Charcot-Marie-Tooth neuropathy (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25,

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Deafness and hereditary hearing loss, nonsyndromic

October 23 2016

Summary Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems), or nonsyndromic (no other visible abnormalities of the external ear or any related medical problem); and prelingual (before language develops) or

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