Test Directory

Hemophilia and other bleeding disorders (32 Genes)

Hereditary red cell membrane disorders [including: hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocystosis] (14 Genes)

Southeast Asian Ovalocytosis

Southeast Asian Ovalocytosis (SAO) is a hereditary red blood cell membrane disorder caused by a mutation in the SLC4A1 gene, leading to stiff, oval-shaped erythrocytes and mild hemolytic anemia. It is common in parts of Southeast Asia and may confer partial protection against malaria.

Bird Shot Retinopathy (HLA-A29)

Birdshot retinopathy is a rare form of posterior uveitis and accounts for 1-3% of uveitis cases in general. Birdshot retinopathy causes severe, progressive inflammation of both the choroid and the retina. Birdshot retinopathy is the disease with the strongest association to a HLA class I antigen, with more than 95% of patients carrying the HLA-A29 antigen. HLA-A*29:02, which is the most frequent A29 allele in the Caucasian population is also the allele most frequently associated with Birdshot retinopathy in Caucasians. The disease has however been observed in HLA*29:01 Caucasian patients.

Celiac Disease

Celiac disease is a chronic, inherited autoimmune disorder in which exposure to gluten proteins from wheat, barley, and rye provokes an abnormal immune response in genetically predisposed individuals, resulting in small intestinal mucosal injury, villous atrophy, and impaired nutrient absorption; clinically, it presents with a broad spectrum of gastrointestinal and systemic symptoms, and management requires lifelong adherence to a strict gluten‑free diet to achieve mucosal healing and prevent complications.

Crohn's Disease

HLA - B*1502

HLA - B*27

HLA - DQ2.5 (HLA-DQA1*05 / HLA-DQB1*02 alleles)

HLA-B*58:01 (Allopurinol Hypersensitivity Testing)

HLA-B*58:01 is a genetic variant strongly associated with severe, potentially life-threatening hypersensitivity reactions to the drug allopurinol, particularly in certain ethnic populations.

HLA-C*06 (Psoriasis vulgaris / Ustekinumab Response)

HLA-C*06:02 is a genetic marker strongly associated with psoriasis vulgaris and may influence clinical response to ustekinumab, a biologic therapy targeting IL-12/IL-23.

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

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.