Asper Ophthalmics
| Genetic test | Disease / Condition | Method | No of detectable markers | Gene | Quantity of DNA | Turn- around Time |
| ABCA4 | Stargardt Disease, Cone-Rod Dystrophy | APEX | 558 | ABCA4 | 3 µg | 3-6 weeks* |
| AD RP | Autosomal Dominant Retinitis Pigmentosa | APEX | 414 | Ca4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS, PNR, KLHL7 | 3 µg | 3-6 weeks* |
| AMD | Age-Related Macular Degeneration | Sequencing | 6 | ARMS2, CFH, CFB, C2 | 200 ng | 3-6 weeks |
| AR RP | Autosomal Recessive Retinitis Pigmentosa | APEX | 594 | CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB, RPE65, USH2A, USH3A, LRAT, PROML1, PBP3 | 6 µg | 3-6 weeks* |
| BEST-VMD | Vitelliform Macular Dystrophy | APX | 138 | BEST1 | 1 µg | 3-6 weeks* |
| BBS, MKKS, BFLS, ALMS, AHO | Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alstrom Syndrome, Albright Hereditary Osteodystrophy | APEX | 346 | BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, BBS11, BBS12, BBS13, PHF6, ALMS1, GNAS1 | 5 µg | 3-6 weeks* |
| Cornea | Corneal Dystrophy | APEX | 333 | COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, TCF8/ZEB1, SLC4A11, UBIAD1 | 3 µg | 3-6 weeks* |
| CSNB | Congenital Stationary Night Blindness | APEX | 159 | RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1, TRPM1 | 2,5 µg | 3-6 weeks* |
| LCA | Leber Congenital Amaurosis | APEX | 641 | AIPL1, CRB1, CRX, GUCY2D, LRAT, TULP1, MERTK, RPE65, RPGRIP1, CEP290, RDH12, LCA5, SPATA7 | 6 µg | 3-6 weeks* |
| LHON | Leber Hereditary Optic Neuropathy | RFLP | 3 | MT-ND4, MT-ND6, MT-ND1 | 500 ng | 3-4 weeks |
| OPA-1 ADOA | Autosomal Dominant Optic Atrophy | APEX | 118 | OPA-1 | 2 µg | 3-6 weeks* |
| Usher | Usher Syndrome | APEX | 612 | CDH23, MYO7A, PCDH15, USH1C, USH1G, USH2A, GPR98, CLRN1, DFNB31 | 6 µg | 3-6 weeks* |
| XL-RP | X-Linked Retinitis Pigmentosa | APEX | 184 | RP2, RPGR | 3 µg | 3-6 weeks* |
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*Express delivery – The results will be delivered in 7 working days from the arrival of samples. For genotyping service only, not for diagnostic package. Asper Reprogenetics |
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| Genetic test | Disease / Condition | Method | No of detectable markers | Gene | Quantity of DNA | Turn- around Time |
| Ashkenazi | Ashkenazi Jewish diseases testing | APEX | 78 | HEXA, BLM, ASPA, SMPD1, IKBKAP, DYT1, MEFV, MCOLN1, FANCC, F11, G6PC, BCKDHB, GJB2,DLD, GDE, SERPINA1, NEB, PCDH15, ABCC8, GBA, CFTR, LDLR, TMEM216 | 3 µg | 3-6 weeks* |
| Carrier | Carriership testing | RFLP | 92 | HBB, CFTR, HEXA, HFE, F2, F5, ACADM, GALT, GJB2, MTHFR, AAT/SERPINA1, MEFV, FAH, ATP7B, SLC26A4, TCN2, DHCR7, PAH, CHRNE, FSHr | 3,5 µg | 3-6 weeks* |
| CF | Cystic Fibrosis | APEX | 271 | CFTR | 2 µg | 3-6 weeks* |
| CAH | Congenital Adrenal Hyperplasia | APEX, MLPA | 20 | CYP21A2 | 250 ng | 3-6 weeks* |
| Noonan | Noonan Syndrome | APEX | BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10, BBS11, BBS12, BBS13, PHF6, ALMS1, GNAS1 | 5 µg | 3-6 weeks* | |
| NT | Syndromes related to increased Nuchal Translucency of fetus | APEX, RFLP, MLPA, Fragment Analysis | 251 | CYP21A2, PTPN11, SOS1, RAF1, KRAS, MEK1, DHCR7, SMN1 | 4,5 µg – fetal DNA 50 ng – maternal DNA | 2-3 weeks |
| SD | Skeletal Dysplasia | APEX, Sequencing | 377 | FGFR3, FGFR2, COL2A1, SLC26A2, ALPL, ROR2, ESCO2, CHST3, SOX9SRY | 4,5 µg – fetal DNA 50 ng – maternal DNA | 2-3 weeks |
| SLO | Smith-Lemli-Opitz Syndrome | APEX | 121 | DHCR7 | 420 ng | 3-6 weeks* |
| Venous Thrombosis risk assessment | Venous Thrombosis | RFLP | 4 | Factor V, prothrombin/ Factor II, MTHFR | 300 ng | 1-2 weeks |
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*Express delivery – The results will be delivered in 7 working days from the arrival of samples. For genotyping service only, not for diagnostic package. Asper Oncogenetics |
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| Genetic test | Disease / Condition | Method | No of detectable markers | Gene | Quantity of DNA | Turn- around Time |
| BRCA | Hereditary Breast and Ovarian Cancer | APEX | 86 | BRCA1, BRCA2, CHEK2, RAD51, NBN | 3 µg | 3-6 weeks* |
| FAP | Familial Adenomatous Polyposis | Sequencing | APC | 1,7 µg | 3-6 weeks | |
| GB | Glioblastoma | APEX | 136 | IDH1, IDH2, CDKN2A, EGFR, NF1, PTEN, PTPN11, RB1, TP53, TSC1, TSC2, PMS2, MLH1, MSH2, MSH6 | 3 µg | 3-6 weeks* |
| HNPCC/ Lynch Syndrome |
Hereditary Nonpolyposis Colorectal Cancer | Sequencing | MSH2, MLH1 | 2 µg | 3-6 weeks | |
| MSI | Microsatellite instability | Fragment Analysis | 6 | tumor-, normal tissue | 3 weeks | |
| TPMT | TPMT Deficiency | RFLP | 3 | TPMT | 300 ng | 1-2 weeks |
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*Express delivery – The results will be delivered in 7 working days from the arrival of samples. For genotyping service only, not for diagnostic package. |
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| Genetic test | Disease / Condition | Method | No of detectable markers | Gene | Quantity of DNA | Turn- around Time |
| ApoE | Recovery from traumatic brain injury, Alzheimer’s Disease, coronary heart disease | Sequencing | 2 | ApoE | 300 ng | 3-6 weeks |
| Beta Thalassemia |
Beta Thalassemia | APEX | 69 | HBB | 1 µg | 3-6 weeks* |
| Lactose Intolerance | Lactose Intolerance | RFLP | 1 | LCT | 200 ng | 1-2 weeks |
| Norovirus | Resistance to norovirus infections | RFLP | 1 | FUT2 | 200 ng | 1-2 weeks |
| SNHL | Sensorineural Hearing Loss | APEX | 246 | GJB2, GJB6, GJB3, MT-RNR1, MT-TS1, SLC26A5, SLC26A4, KCNQ4, TMC1, MYO15A, MYO7A | 2 µg | 3-6 weeks* |
| Wilson | Wilson Disease | APEX | 97 | ATP7B | 2 µg | 3-6 weeks* |
*Express delivery – The results will be delivered in 7 working days from the arrival of samples. For genotyping service only, not for diagnostic package.
Download Turnaround times table (PDF).
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