Test Directory

Hyper-IgE syndrome and eosinophilia (39 Genes)

This panel analyses 39 genes associated with hyper...

KIR and HLA-C Genotyping

Test assess the risk of embryo rejection. KIR and HLA-C genotyping assesses maternal-foetal immune compatibility. Differences between maternal killer-cell immunoglobulin-like receptor (KIR) genes and foetal HLA-C alleles may increase the risk of abnormal immune responses, which can contribute to implantation failure, recurrent miscarriage, preeclampsia, or preterm birth.

Mulitple Sclerosis

Narcolepsy (HLA-DQB1*0602)

Narcolepsy is a chronic, debilitating sleep disorder. One of the most important associated genetic factors is the HLA-DQB1*06:02 allele on the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Between 85 and 95% of narcolepsy patients with cataplexy carry this haplotype. Persons homozygous for HLA-DQB1*06:02 carry a greater risk than heterozygous persons. The detection of HLA-DQB1*06:02 typing is useful as an aid to diagnosis in patients with cataplexy.

Sjögren's disease

HLA-DR and HLA-DQ haplotypes are known genetic susceptibility factors for Sjögren's disease, particularly among individuals with anti-SSA/Ro and anti-SSB/La autoantibodies. However, the presence of these alleles is not diagnostic, as they are also observed in unaffected individuals.

Steven-Johnson Syndrome/Toxi Epidermal Necrosis/Carbamazepine-induced

Reprogene HER

Reprogene HER (multigene testing, Fragile X and KT)

Reprogene HIS

Reprogene HIS (multigene testing, YMD and KT)

Bi-Parental Study / Molecular PN Check

Chimerism, Donor

Evaluating the relative amounts of recipient and donor cells present post transplant. Determines successful engraftment, relapse of disease, or potential graft rejection.

Chimerism, Posttransplant

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B). OR bone marrow in lavender (EDTA)

Chimerism, Recipient - Pretransplant

Evaluating the relative amounts of recipient and donor cells present post transplant. Determines successful engraftment, relapse of disease, or potential graft rejection.

Hydatidiform Mole Genotyping

Multiplex PCR for STP markers in matched decidua and villous samples to aid differentiation between non-molar abortus, partial hydatidiform mole, and complete hydatidiform mole.

Kinship Duo

Kinship Single (add-on)

Kinship Trio

Parental Check - Embryo

MCM6 genotyping

MCM6 genotyping can provide important diagnostic clues in the clarification of a suspicion of lactose intolerance. For this genetic examination, only a simple blood sample is necessary.The presence of lactose intolerance can be proven by the detection of certain genetic constellations: With regard to the C/T-13910 polymorphism, a so-called CC genotype is evidence of lactose intolerance. In the case of the G/A-22018 polymorphism, it is the so-called GG genotype that is responsible for lactose intolerance.

Leigh's Disease -3 mutation (T12706C, A13084T, G13513A)

A genetically heterogeneous mitochondrial neurodegenerative disorder. Tests for three common mutations or genes frequently implicated in its pathogenesis. Test detects m.12706T>C, m.13084A>T and m.13513G>A in the MT-ND5 gene strongly linked to Leigh syndrome and MELAS/Leigh overlap syndromes.

Rapid Aneuploidy Test (RAT) - Chr. 13, 18, 21, X, Y - Postnatal

Rapid Prenatal Testing for common aneuploidies; Trisomy 13 (Patau syndrome), Trisomy 18 (Edward syndrome), Trisomy 21 (Down syndrome), Triploidy, and sex chromosome aneuploidy