PLEKHG4

OMIMHGNC

Synonym(s): DKFZP434I216, ARHGEF44, SCA4

Locus: 16q22.1

Protein: Puratrophin-1

Tests

Test Type
Molecular (7)
Multi-Gene Panel (3)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (2)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (3)
Sequencing, Next Gen (5)
Prenatal/Carrier
Prenatal (1)
Carrier (1)
Lab Location
Spain(2)
Portugal(3)
USA(1)
Germany(1)
 
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: AFG3L2, BEAN, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PDYN, PLEKHG4, PRKCG, SPTBN2, TGM6, TTBK2.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 30 genes: ADCK3, AFG3L2, ANO10, APTX, BEAN, CACNA1A, CACNB4, FGF14, FXN, IFRD1, ITPR1, KCNA1, KCNC3, MTP, MTPAP, PDYN, PIK3R5, PLEKHG4, PRKCG, SACS, SETX, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TTBK2, TTPA, ZNF592
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Detection of c.-16C>T mutations on PLEKHG4 gene
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Sequence analysis of PLEKHG4 gene
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Hereditary ataxias (NGS panel for 37 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
PLEKHG4
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Spinocerebellar ataxia type 4, autosomal dominant
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany