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Diagnostic Service Facility

Genetic tests

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Belgian patients

Phenotype/ Clinical indication Test OMIM (gene ID) Exons/Amplicons Technique Turnaround time (months)
Dementia
  PSEN1  104311 3 - 12 PCR+sequencing 3
  APP  104760 16 - 17 PCR+sequencing 3
Alzheimer dementia (AD)
  PSEN1  104311 3 - 12 PCR+sequencing 3
  APP  104760 16 - 17 PCR+sequencing 3
  APP duplication 104760 gen dosage MAQ 3
  APP promotor 104760 2 amplicons PCR+sequencing 3
  PGRN 138945 2 - 13 PCR+sequencing 3
Familial Alzheimer dementia
  PSEN1  104311 3 - 12 PCR+sequencing 3
  APP  104760 16 - 17 PCR+sequencing 3
  APP duplication 104760 gen dosage MAQ 3
  PSEN2  600759 3 - 12 PCR+sequencing 6
  MAPT  157140 1, 9 - 13 PCR+sequencing 3
  PRNP 176640 1 (3 amplicons) PCR+sequencing 3
Alzheimer mutation carriers
  APOE genotype 107741 1 PCR+sequencing 3
Cerebral amyloid angiopathy (CAA)
  APP  104760 16 - 17 PCR+sequencing 3
  APP duplication 104760 gen dosage MAQ 3
  APP promotor 104760 2 amplicons PCR+sequencing 3
Frontotemporal lobar degeneration (FTLD)
  PGRN 138945 13 - 2 PCR+sequencing 3
  C9orf72 repeat 614260 repeat expansie  PCR+sequencing 3
  MAPT  157140 1, 9 - 13 PCR+sequencing 3
  VCP 601023 3 17 PCR+sequencing 6
  CHMP2B 609512 1 - 6 PCR+sequencing 6
Parkinsons disease (PD)
  LRRK2 609007 24,25,29,30,31,35,41 PCR+sequencing 3
  PARK2 602544 1 - 12 PCR+sequencing 3
  PARK2 dosage 602544 exon dosage MAQ + QPCR 3
  SNCA  163890 2 - 6 PCR+sequencing 3
  SNCA dosage 163890 gene dosage QPCR 3
  PINK1 608309 1 - 8 PCR+sequencing 6
  DJ1 602533 2 - 6 PCR+sequencing 6
Amyotrophic lateral sclerosis (ALS)
  C9orf72 repeat 614260 repeat expansie  PCR+sequencing 3
  SOD1  147450 41030 PCR+sequencing 6
  TARDBP 605078 2 – 6  PCR+sequencing 6
  FUS 137070 42005 PCR+sequencing 6
Prion diseases (CJD/GSS/FFI)
  PRNP 176640 1 (3 amplicons) PCR+sequencing 3
  PRNP codon 129  176640 1 amplicon PCR+sequencing 3
Dravet syndrome, severe myoclonic epilepsy of infancy (SMEI)
  SCN1A 182389 1 - 26 (28 amplicons) PCR+sequencing 6
  SCN1A exon dosage 182389 exon dosage MAQ 6
Epilepsy with febrile seizures (GEFS+)
  SCN1A 182389 1 - 26 (28 amplicons) PCR+sequencing 6
Benign (familial) neonatal seizures (BNS/BFNS)
  KCNQ2 602235 1 - 17 (18 amplicons) PCR+sequencing 6
GLUT1 deficiency, paroxysmal dyskinesia
  SLC2A1 GLUT-1) 138140 1 - 10 PCR+sequencing 6
Epileptic encephalopathy, Ohtahara syndrome
  STXBP1 602926 1 - 20 PCR+sequencing 6
  KCNQ2 602235 1 - 17 (18 amplicons) PCR+sequencing 6
Progressive external ophtalmoplegia (PEO), Alpers syndrome
  POLG 174763 2 - 23 (16 amplicons) PCR+sequencing 6
  C10ORF2 (Twinkle)  606075 1 - 5 (6 amplicons) PCR+sequencing 6
Charcot-Marie-Tooth type 1 (CMT1)
  CMT1A duplication 601097 CMT1A regio chr17p11.2 MAQ+STR 3
  GJB1  304040 2 PCR+sequencing 6
  MPZ  159440 1 - 6 (5 amplicons) PCR+sequencing 6
  PMP22  601097 1 - 4 PCR+sequencing 6
Charcot-Marie-Tooth type 2 (CMT2)
  GJB1 304040 2 PCR+sequencing 6
  MPZ 159440 1 - 6 (5 amplicons) PCR+sequencing 6
  MFN2  608507 1 - 17 (16 amplicons) PCR+sequencing 6
Hereditary neuropathy with liability to pressure palsies (HNPP)
  HNPP deletion 601097 HNPP regio chr17p11.2 MAQ+STR 3
  PMP22 601097 1 - 4  PCR+sequencing 6
Dejerine-Sottas syndrome, congenital hypomyelinisation
  CMT1A duplication 601097 CMT1A regio chr17p11.2 MAQ+STR 3
  MPZ 159440 1 - 6 (5 amplicons) PCR+sequencing 6
  PMP22 601097 1 - 4  PCR+sequencing 6
Hereditairy spastic paraplegia (HSP)
  SPAST (SPG4) 604277 1 - 17 (16 amplicons) PCR+sequencing 6
  SPAST exon dosage 604277 exon dosage MAQ 6
  ATL1 (SPG3A)  606439 1 - 14 PCR+sequencing 6
Known, familial mutation
      1
Prenatal testing
      2 weeks
Presymptomatic testing
          2 weeks