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Newborn Genetic screening
Newborn screening is a preventive measure in the field of population medicine. It is used for the early detection and quality-assured treatment of all newborns with certain treatable endocrine, metabolic and immunological diseases.
Genetic diagnostics can help to confirm the diagnosis from the biochemical screening examination. Since the affected enzyme/protein is already known from the screening result, the relevant genes are specifically investigated.
Identify serious metabolic disorders the baby might have been born with is very critical. These disorders, if undetected and untreated, can have adverse consequences for the baby.
Biochemical vs Genetic Testing ?
Lab Testing using Mass spectrometry methods is recommended for any newborn after 24 hours of birth, and the test is ideally conducted between 24 to 72 hours after birth.
Even if this time window is missed, the test can still be performed. There is no age limit, but the sooner the test is conducted, the better.
Early identification of a disorder enables the initiation of treatment at the earliest possible stage. Genetic diagnostics shall be done to confirm the diagnosis from the biochemical screening examination
Panels and Tests
Sample for genetic testing: the first step is to make a painless heel prick. A few drops of blood from the baby’s heel are then placed on a special type of filter paper. The paper is allowed to dry and is then sent to the lab.
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, AHCY, AK2, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CD3D, CD3E, CFTR, CIITA, CPS1, CPT1A, CPT2, CYP11B1, CYP17A1, CYP21A2, DBT, DCLRE1C, DLD, DNAJC19, DUOX2, ETFA, ETFB, ETFDH, FAH, G6PD, GAA, GALC, GALE, GALK1, GALT, GBA, GCDH, GCH1, GJB2, GJB3, GJB6, GLA, GNMT, GSS, HADH, HADHA, HADHB, HBA1, HBB, HCFC1, HLCS, HMGCL, HPD, HSD17B10, HSD3B2, IDUA, IL2, IL21R, IL2RG, IL7R, IVD, JAK3, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, NADK2, NGLY1, NHEJ1, NKX2-5,NPC1, NPC2, OAT, OPA3, OTC, PAH, PAX8, PCBD1, PCCA, PCCB, PNP, PSAP, PTPRC, PTS, QDPR, RAG1, RAG2, RFX5, RFXANK, RFXAP, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC5A5, SMPD1, STAR, SUCLA2, SUCLG1, TAP1, TAPBP, TAT, TG, THRA, TPO, TSHB, TSHR
Diagnose 100+ Metabolic and Biochemical Disorders
- Blood sample: A few drops of blood from the baby’s heel are then placed on a special type of filter paper. The paper is allowed to dry and is then sent to the lab where tests are performed using Tandem Mass Spectrometry (TMS) and other technologies.
- Urine sample: A urine sample to screen for 100+ disorders in urine Organic analysis acid by GCMS
Early detection allows for prompt initiation of treatment before the disorder causes harm to the baby.
