Rodinia - Neonatal Thrombocytopenia and Thrombophilia - standalone panel

What is the Rodinia test?  

Rodinia test for thrombophilia and neonatal thrombocytopenia (NAIT) detects genetic variants that increase the risk of miscarriages, thrombotic events, and alloimmune neonatal thrombocytopenia (NAIT). The test helps identify individuals at risk of complications and allows for the implementation of appropriate treatment, such as hormonal therapy or anticoagulants, to reduce the risk of complications during pregnancy and childbirth. A total of 22 genetic variants associated with these conditions are analyzed in 17 different genes. The panel can be performed as a standalone test or added to the Rodinia panels for women or men.

Who is the Rodinia test for? – infertility testing

• Couples or individuals experiencing recurrent miscarriages,
• Individuals with early onset or a positive family history of thrombotic events,
• Individuals with recurrent episodes of thrombosis,
• Newborns with thrombocytopenia,
• Newborns with unexplained thrombosis.

How should you prepare for the test?

• The test does not require special preparation. You do not need to fast or stop taking any medications. A doctor's referral is not required.
• After purchasing the test, you should go to a collection point during the working hours of the chosen facility for an oral epithelial swab collection.
• You can take the test within 3 months of purchasing it (counting from the date indicated in the order confirmation).

How is the test performed?

• Buy Rodinia – choose the appropriate Rodinia panel and make the purchase at any Centrum Medyczne Damiana facility or online. You can perform the test individually or with your partner.
• Come for an inner cheek swab collection during the working hours of the collection point at one of our facilities. You do not need to fast or stop taking any medications.
  IMPORTANT! The test involves collecting a swab from the inside of the cheek and requires no special preparation, but it is important to know a few key points to avoid disqualifying the sample collected.
  You must not smoke, eat, drink (except water), brush your teeth, use dental liquid, or chew gum within 60 minutes before the sample collection.
• The collected sample is sent for analysis in advanced Medicover Genetics laboratories in Cyprus.
• You will receive the result 2 – 4 weeks after the sample arrives at the laboratory. The result will be sent to the previously provided email address.
• FREE GENETIC CONSULTATION – After receiving the test report, you can discuss the result with a clinical geneticist within 3 months of receiving the report.

How long do you wait for the result and how to interpret it?  

You will receive the result in 2-4 weeks

The report includes only variants classified as pathogenic, likely pathogenic, or of uncertain significance (VUS) according to ACMG guidelines. The result may indicate:

• Clinical significance detected – a pathogenic or likely pathogenic variant associated with infertility;
• No clinically significant variant detected – no changes associated with infertility in the tested genes;
• Uncertain significance variant detected (VUS) – a genetic change whose impact on fertility is currently unclear. Carrier status for recessive diseases is not reported. After the test, a genetic consultation is crucial to properly interpret the result and plan further steps.

Additionally, the thrombophilia and NAIT panel

• Identify miscarriage risk – detects mutations increasing the risk of early and late miscarriages.
• Assess thrombosis risk – allows the detection of predispositions to thrombotic events in the patient and their family.
• Prevent pregnancy complications – enables the implementation of treatment (e.g., anticoagulants, hormonal therapy) to reduce the risk of miscarriage and complications during childbirth.
• Early diagnosis of NAIT – identifies the risk of alloimmune neonatal thrombocytopenia, which can lead to intracranial hemorrhages.
• Personalized clinical management – the test results help the doctor select the best treatment and monitoring plan for pregnancy.
• Tests selected genetic variants associated with recurrent miscarriages, thrombophilia, and neonatal thrombocytopenia.
• Can be selected as an additional panel to the female or male panel or as a standalone panel.
• Identification of variants associated with recurrent miscarriages may indicate the need for treatment, such as hormonal therapy or anticoagulants, which may reduce the risk of complications during pregnancy and childbirth.

Technical data / methods

• Detected mutations: 22 genetic variants in 17 different genes.
• NM_000130.4(F5):c.1601G>A (p.Arg534Gln). NM_000130.4(F5):c.3980A>G (p.His1327Arg). NM_000129.3(F13A1):c.103G>T (p.Val35Leu). NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro). NM_000173.7(GP1BA):c.482C>T (p.Thr161Met). NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser). NM_000212.2(ITGB3):c.506G>A (p.Arg169Gln). NM_002203.4(ITGA2):c.1600G>A (p.Glu534Lys). NM_000212.2(ITGB3):c.1544G>A (p.Arg515Gln). NM_000602.5(SERPINE1):c.-820G[(4_5)]. NM_005957.5(MTHFR):c.665C>T (p.Ala222Val). NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala). NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382. NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln). NM_000041.2(APOE):c.526C>T (p.Arg176Cys). NM_000041.4(APOE):c.388T>C (p.Cys130Arg). NM_000254.2(MTR):c.2756A>G (p.Asp919Gly). NM_002454.3(MTRR):c.66A>G (p.Ile22Met). NM_000029.4(AGT):c.803T>C (p.Met268Thr). NM_031850.3(AGTR1):c.*86A>C. NM_000852.4(GSTP1):c.313A>G (p.Ile105Val). NM_000506.5(F2):c.*97G>A.
• Reference genome: GRCh37
• Coverage: >97% with a depth of at least 20x
• The test uses data from databases: gnomAD, ExAC, ClinGen, DECIPHER, and others
• Variant classification: in accordance with ACMG guidelines
• SNV detection sensitivity and specificity: sensitivity 100% (range 87-100%), specificity 100% (range 99.9-100%)