Neurogenetics Department (Code 28)
| CODE | TYPE OF SERVICE | UOM | |
| 1 | Transthyretin Val30Met mutation detection test | /patient | |
| 1.01 | Transthyretin DNA sequencing test | /patient | |
| 2 | Huntington CAG triplet repeat test | /patient | |
| 3 | Friedreich’s Ataxia (FRDA) Frataxin GAA tiplet repeat test | /patient | |
| 3.01 | National Prevention Program for Friedreich Ataxia | /test | |
| 4 | Spinocerebellar Ataxia 1 (SCA1) CAG triplet repeat test | /patient | |
| 5 | Spinocerebellar Ataxia 3 (SCA3) CAG triplet repeat test | /patient | |
| 6.02 | Myelin Protein Zero (MPZ) sequencing test | /test | |
| 6.03 | Connexin 32 (CX32 / GJB1) sequencing test | /test | |
| 6.04 | Peripheral Myelin Protein 22 (PMP22) sequencing test | /test | |
| 6.05 | CMT1A/HNPP MLPA evaluation | /test | |
| 6.06 | Mitofusin 2 (MFN2) gene sequencing test | /test | |
| 6.07 | Neurofilament-light (NEFL) gene sequencing test | /test | |
| 6.08 | Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene sequencing test | /test | |
| 6.09 | Glycyl-tRNA synthetase (GARS) gene sequencing test [CMT2D; DSMAV] | /test | |
| 6.1 | Early growth response 2 (EGR2) gene sequencing test [CMT1D; CMT4E] | /test | |
| 6.11 | Detection of the c.892C>T mutation in exon 5 of the LMNA gene [ARCMT2] | /test | |
| 7.01 | SMA MLPA evaluation | /patient | |
| 8 | Known LGMD2 mutation detection test | /patient | |
| 8.01 | Linkage analysis (LGMD2A – LGMD2I loci) | /family | |
| 9 | DM1 CTG triplet repeat test | /patient | |
| 10 | DNA Extraction & Banking | /patient | |
| 12/13/14 | Spinocerebellar Ataxia 2/6/7 (SCA2/6/7) CAG triplet repeat test | /patient | |
| 15 | SCA Panel (SCA1, 2, 3, 6, 7) test | /patient | |
| 16/17/18 | Spinocerebellar Ataxia 8/17/18 (SCA8/17/18) CTA/CTG repeat test | /patient | |
| 19 | DRPLA CAG triplet repeat test | /patient | |
| 20 | Aprataxin (APTX) sequencing test | /patient | |
| 21 | Spinocerebellar Ataxia 10 (SCA10) ATTCT repeat test | /patient | |
| 22 | Spinal and bulbar muscular atrophy (SBMA) or Kennedy’s disease, androgen receptor CAG triplet repeat test | /patient | |
| 23 | SOD1 gene sequencing test | /patient | |
| 24 | Detection of the N88S / S90L mutations in exon 3 of the BSCL2 gene [HMN5] | /test | |
| 25 | TAR DNA binding protein TARDBP (TDP-43) gene sequencing test [ALS10] | /test | |
| 26 | Detection of the G2019S mutation in exon 41 of the LRRK2 gene [PARK8] | /test | |
| 27 | Gap junction protein, gamma 2 (GJC2) gene sequencing test [SPG44] | /test | |
| 28 | Spastin (SPAST) gene sequencing test [SPG4] | /test | |
| 29 | Atlastin GTPase 1 (ATL1) gene sequencing test [SPG3] | /test | |
| 30 | SPAST and ATL1 genes MLPA evaluation [SPG4 and SPG3] | /test | |
| 31 | Receptor expression enhancing protein 1 (REEP1) gene sequencing test [SPG31] (private only) | /test | |
| 32 | Fused in sarcoma (FUS) gene sequencing test [ALS6] (private only) | /test | |
| 33 | C9orf72 gene GGGGCC hexanucleotide repeat test [ALSFTD] (private only) | /test | |
| 34 | Lamin A/C (LMNA) gene sequencing test [CMD1A] (private only) | /test | |
| 35 | ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2) gene sequencing test [FHM2] (private only) | /test | |
| 36 | Low density lipoprotein receptor-related protein 5 (LRP5)(private only) | /test | |
| 37 |
|
/family | |
| 40.2 |
Cardiomyopathy panel (in silico panel from WES) |
/patient | |
| 41 | Amyotrophic Lateral Sclerosis panel (in silico panel from WES) | /patient | |
| 42 | Ataxia panel (in silico panel from WES) | /patient | |
| 43 |
Cerebral Cavernous Malformation panel (in silico panel from WES) |
/patient | |
| 44 |
Charcot-Marie-Tooth Neuropathy panel (in silico panel from WES) |
/patient | |
| 45 |
Congenital Myasthenic Syndromes panel (in silico panel from WES) |
/patient | |
| 46 |
Custom Neuro panel (in silico panel from WES) |
/patient | |
| 47 |
Dementia panel (in silico panel from WES) |
/patient | |
| 48 |
Distal Hereditary Motor Neuropathy panel (in silico panel from WES) |
/patient | |
| 49 |
Dystonia panel (in silico panel from WES) |
/patient | |
| 50 |
Epilepsy panel (in silico panel from WES) |
/patient | |
| 51 |
Hemiplegia/Stroke Panel (in silico panel from WES) |
/patient | |
| 52 |
Leukodystrophy and Leukoencephalopathy panel (in silico panel from WES) |
/patient | |
| 53 |
Migraine panel (in silico panel from WES) |
/patient | |
| 54 |
Muscular Dystrophy-Myopathy panel (in silico panel from WES) |
/patient | |
| 55 |
Neurofibromatosis panel (in silico panel from WES) |
/patient | |
| 56 |
Neuro-ophthalmic panel (in silico panel from WES) |
/patient | |
| 57 |
Parkinson Disease panel (in silico panel from WES) |
/patient | |
| 58 |
Retinal degeneration panel (in silico panel from WES) |
/patient | |
| 59 |
Spastic Paraplegia panel (in silico panel from WES) |
/patient | |
| 60 |
Spinal Muscular Atrophy panel (in silico panel from WES) |
/patient | |
| 61 |
Tuberous Sclerosis panel (in silico panel from WES) |
/patient | |
| 64/65 | Whole Exome Sequencing-WES (Single/Trio) | /patient | |
| 67 |
Open WES data after in silico panel |
/patient | |
| 69 |
Trio in silico panel from WES (applied for all above disease specific panels) |
/family trio | |
| 70 | Sanger sequencing based confirmation of a variant identified by NGS | /patient | |
| 71 | Carrier diagnosis for Duchenne | /test | |
| 72 | RFC1 gene AAGGG pentanucleotide repeat test [CANVAS and other RFC1-related disorders] | /test | |
| 73 | FGF14 gene GAA triplet repeat expansion test [SCA27B] | /test | |
| 80 | Family Analysis* |
/family |
|
| 81/82 | Prenatal diagnosis* | /prenatal | |
| 83 | Analysis of known gene mutation for additional family members | /test | |
| *Provided for all diseases specified above |
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