| Phenotype | Gene (Analysis) | OMIM | Exons/Amplicons | Technique | Price in Euro |
|---|---|---|---|---|---|
| AD request form | |||||
| AD, FTLD | PSEN1 | 104311 | 3 - 12 | PCR+sequencing | 400 |
| AD, CAA | APP | 104760 | 16 - 17 | PCR+sequencing | 400 |
| AD, CAA | APP promotor variations | 104760 | 2 amplicons | PCR+sequencing | 400 |
| AD, CAA | APP duplication | 104760 | gene dosage | MAQ | 400 |
| AD | PSEN1ex9 deletion | 104760 | gene dosage | MAQ | 400 |
| AD, FTLD | PSEN2 | 600759 | 3 - 12 | PCR+sequencing | 400 |
| AD, FTLD | APOE (only in mutation carriers) | 107741 | 1 | PCR+sequencing | 400 |
| FTLD, AD | GRN | 138945 | 2 - 13 | PCR+sequencing | 500 |
| FTLD, AD | MAPT | 157140 | 1, 9 - 13 | PCR+sequencing | 400 |
| CJD, GSS, FFI, AD | PRNP | 176640 | 1 (3 amplicons) | PCR+sequencing | 400 |
| CAA request form | |||||
| CAA, AD | APP | 104760 | 16 - 17 | PCR+sequencing | 400 |
| CAA, AD | APP promotor variations | 104760 | 2 amplicons | PCR+sequencing | 400 |
| CAA, AD | APP duplication | 104760 | gene dosage | MAQ | 400 |
| CAA, AD | APOE (only in mutation carriers) | 107741 | 1 | PCR+sequencing | 400 |
| FTLD request form | |||||
| FTLD, AD | GRN | 138945 | 2 - 13 | PCR+sequencing | 500 |
| FTLD, AD | MAPT | 157140 | 1, 9 - 13 | PCR+sequencing | 400 |
| FTLD, ALS | C90RF72 | repeat expansion | PCR+sequencing | ||
| FTLD | VCP | 601023 | 3 - 17 | PCR+sequencing | 600 |
| FTLD | CHMP2B | 609512 | 1 - 6 | PCR+sequencing | 400 |
| AD, FTLD | PSEN1 | 104311 | 3 - 12 | PCR+sequencing | 400 |
| PD request form | |||||
| PD | LRRK2 | 609007 | 24,25,29,30,31,35,41 | PCR+sequencing | 400 |
| PD | PARK2 | 602544 | 1 - 12 | PCR+sequencing | 500 |
| PD | PARK2 deletions/duplications | 602544 | exon dosage | MAQ + QPCR | 900 |
| PD | SNCA | 163890 | 2 - 6 | PCR+sequencing | 400 |
| PD | SNCA duplication/triplication | 163890 | gene dosage | QPCR | 400 |
| PD | PINK1 | 608309 | 1 - 8 | PCR+sequencing | 400 |
| PD | DJ1 | 602533 | 2 - 6 | PCR+sequencing | 400 |
| ALS request form | |||||
| ALS | SOD1 | 147450 | 1 - 5 | PCR+sequencing | 400 |
| ALS, FTLD | C90RF72 | repeat expansion | PCR+sequencing | ||
| ALS | TARDBP | 605078 | 2 - 6 | PCR+sequencing | 400 |
| ALS | FUS | 137070 | 1 - 15 | PCR+sequencing | 600 |
| Prion diseases request form | |||||
| CJD, GSS, FFI, AD | PRNP | 176640 | 1 (3 amplicons) | PCR+sequencing | 400 |
| CJD, GSS, FFI, AD | PRNP codon129 polymorphism | 176640 | 1 amplicon | PCR+sequencing | 200 |
| Fabry request form | |||||
| Fabry disease | GLA | 300644 | 1 - 7 | PCR+sequencing | 400 |
| CMT request form | |||||
| CMT1 | CMT1A duplication | 118220 | exon dosage | MAQ | 500 |
| HNPP | HNPP deletion | 162500 | exon dosage | MAQ | 500 |
| CMT1, CMT2 | GJB1 | 302800 | 2 (3 amplicons) | PCR+sequencing | 400 |
| CMT1, CMT2 | MPZ | 118200 | 1 - 6 (5 amplicons) | PCR+sequencing | 400 |
| CMT1 | PMP22 | 118220 | 1 - 4 | PCR+sequencing | 400 |
| CMT2 | MFN2 | 609260 | 1 - 17 (16 amplicons) | PCR+sequencing | 650 |
| HSP request form | |||||
| Spastic paraplegia | SPAST (SPG4) | 182601 | 1 - 17 (16 amplicons) | PCR+sequencing | 650 |
| Spastic paraplegia | SPAST dosage | 182601 | exon dosage | MLPA | 500 |
| Spastic paraplegia | SPG3A | 182600 | 1 - 14 | PCR+sequencing | 600 |
| Epilepsy request form | |||||
| Dravet syndrome, SMEI, GEFS+ | SCN1A | 607208 | 1 - 26 (28 amplicons) | PCR+sequencing | 1100 |
| Dravet syndrome, SMEI | SCN1A dosage | 607208 | exon dosage | MAQ | 600 |
| BNS, BFNS | KCNQ2 | 121200 | 1 - 17 (18 amplicons) | PCR+sequencing | 700 |
| PEO request form | |||||
| PEO, Alpers syndrome | POLG | 157640 | 2 - 23 (16 amplicons) | PCR+sequencing | 650 |
| PEO | PEO1 (Twinkle) | 609286 | 1 - 5 (6 amplicons) | PCR+sequencing | 400 |
| Presymptomatic screening | |||||
| mutation | 200 | ||||
| Carrier testing | |||||
| mutation | 200 | ||||
| Abbreviatons: | |
|---|---|
| AD | Alzheimer Disease |
| ALS | Amyotrophic Lateral Sclerosis |
| B(F)NS | Benigne (familial) neonatal seizures |
| CAA | Cerebral Amyloid Angiopathy |
| CJD | Creutzfeldt-Jakob Disease |
| CMT1 | Charcot-Marie-Tooth disease type 1 |
| CMT2 | Charcot-Marie-Tooth disease type 2 |
| FFI | Fatal Familial Insomnia |
| FTLD | Frontotemporal Lobar Degeneration |
| GEFS+ | Generalized epilepsy with febrile seizures plus |
| GSS | Gerstmann-Sträussler-Scheinker |
| HNPP | Hereditairy neuropathy with liability to pressure palsies |
| HSP | Hereditary spastic paraplegia |
| MAQ | Multiplex Amplicon Quantification |
| MLPA | Multiplex Ligation-dependent Probe Amplification |
| PD | Parkinson disease |
| PEO | Progressive external ophtalmoplegia |
| SMEI | Severe myoclonic epilepsy of infancy |