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*

*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

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

*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

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

*Express delivery – The results will be delivered in 7 working days from the arrival of samples. For genotyping service only, not for diagnostic package.

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).

Asper Ophthalmics
Asper Oncogenetics
Asper Reprogenetics