Test Directory
Browse our comprehensive catalog of genetic tests
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.
KinshipHydatidiform 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.
KinshipMCM6 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.
Mendelian GeneticsLeigh'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.
Metabolic GeneticsAchondroplasia (FGFR3) - 2 mutations c.1138G>A/C
DNA analysis for FGFR3 mutations to identify the G1138A (known as point mutation G380R) in patients with achondroplasia and the novel missense mutation (Lys650Met) in tyrosine kinase.
Monogenic disorderApolipoproteins E (APOE) ε (ε4, ε3 and ε2) Genotyping
The three main alleles of the APOE gene (ε4, ε3 and ε2) carry differential risks for conditions including Alzheimer's disease (AD) and cardiovascular disease and hypercholesterolaemia.
Monogenic disorderBeta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood)
HBB gene sequencing by NGS provides complete coverage of the gene, including intronic regions and untranslated regions (-100 in the 5′ UTR through +320 in the 3′ UTR), addressing over 450 known mutations. The test is reflexed to Multiplex Ligation‑dependent Probe Amplification for detection of deletions.
Monogenic disorderDuchenne/Becker Muscular Dystrophy Deletion/Duplication Test
Molecular testing for Duchenne and Becker muscular dystrophy involves multiple ligation-dependent probe amplification (MLPA) analysis that can detect up to 98% of all deletions and duplications in the DMD gene in patients and females that carry the mutation. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Monogenic disorderFactor V Leiden (R506Q, H1327R)
F5 targeted analysis is a molecular test used to identify the common R506Q/p.Arg534Gln variant in the gene associated with Factor V Leiden thrombophilia. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family.
Monogenic disorderG6PD Sequence Analysis (Sanger/NGS)
This test is used for molecular diagnosis of glucose-6-phophate dehydrogenase deficiency. by full gene sequencing and deletion/duplication analysis. Molecular diagnosis of G6PD by amplicon sequencing via Next Generation Sequencing. All 14 exons and at least +/- 10 bp in the introns are sequenced for pathogenic and likley pathogenic variants of G6PD, mostly produced from missense mutations. Variants of uncertain significance are not reported.
Monogenic disorderGilbert Syndrome (UGT1A)
This test is intended to identify the UGT1A1*28 (g.4963_4964[7]), UGT1A1*36 (g.4963_4964[5]), and UGT1A1*37 (g.4963_4964[8]) variants in UGT1A1 from genomic DNA. Information about these variants may be used as an aid to clinicians for confirming a diagnosis of Gilbert syndrome
Monogenic disorder