Optional Disorders

List of disorders included in OPTIONAL SCREENING offered by MA DPH (Pilot Studies)

You will be asked whether you want your baby to be screened in the MET and SCID pilot studies:

“MET” pilot study

If you say yes, your baby will be screened for laboratory markers of the following 5 disorders.

  1. Carnitine palmitoyltransferase II deficiency (CPT II)
  2. Dienoyl-CoA reductase deficiency (DE RED)
  3. Hyperornithinemia, Hyperammoninemia, Homocitrullinemia Syndrome (HHH)
  4. Malonic acidemia (MAL)
  5. Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency (M/SCHAD)

Screening for these 5 disorders may show information about the following disorders and conditions (byproducts of optional MET screening)

  • Carnitine: acylcarnitine translocase deficiency (CACT)
  • Carrier status of any of the 5 MET pilot study disorders or CACT.

“SCID” pilot study
If you say yes, your baby will be screened for laboratory markers of the disorder called:

  1. Severe Combined Immunodeficiency (SCID).

Screening for SCID may show information about the following disorders and conditions (by products of optional SCID screening).

  • Non-SCID primary immunodeficiencies or other conditions associated with low T cells.
  • Carrier status of SCID.