What disorders are currently screened for?

According to the Texas Department of State Health Services, all Texas Newborns are screened for the following disorders listed below.

[one_half last=”no”]

• Biotinidase Deficiency (BIOT)
• Congenital Adrenal Hyperplasia (CAH)
• Congenital Hypothyroidism (CH)
• Cystic Fibrosis (CF)
• Galactosemia (GAL)
• Homocystinuria (HCY)
• Maple Syrup Urine Disease (MSUD)
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Phenylketonuria (PKU)
• Severe Combined Immunodeficiency (SCID)
• Sickle Cell Disease (SCD)
• Tyrosinemia Type I (TYR 1)
• Other Fatty Acid Oxidation (FAO)
  • Carnitine Uptake Defect (CUD),
  • Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD),
  • Trifunctional Protein Deficiency (TFP), and
  • Very-Long-Chain Acyl-Co A Dehydrogenase Deficiency (VLCAD).

  [/one_half]

[one_half last=”yes”]

• Organic Acid (OA)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC),
  • Beta-Ketothiolase Deficiency (BKD),
  • Glutaric Acidemia Type I (GAI),
  • Hydroxymethylglutaric Aciduria (HMG),
  • Isovaleric Acidemia (IVA),
  • Methylmalonic Acidemia(MMA) (Cbl A and Cbl B forms) ( Cbl A,B),
  • Methylmalonic Acidemia (mutase deficiency form) (MUT),
  • Multiple Carboxylase Deficiency (MCD), and
  • Propionic Acidemia (PROP).
• Urea Cycle Disorders (UCD)
  • rgininosuccinic Acidemia (ASA)
  • Citrullinemia (CIT). [/one_half]

What about Krabbe Disease?

Krabbe Disease is not currently one of the diseases tested for through the newborn screening process in Texas. The only two states that currently screen for Krabbe are New York and Missouri.

Even though HB1785, also known as Greyson’s Law, aimed at expanding Texas’s Newborn screening program was signed by Governor Rick Perry  in 2009, the law has not been implemented due to cut funding.

The State of Texas has recently allocated funds to Greyson’s Law that will add a secondary panel of diseases to be screened for.  The secondary panel includes 24 additional diseases, increasing the total number of diseases screened for to 55.  Implementation is expected to begin in early 2015.

Although Krabbe is not one of the diseases being added through this iteration of the law, it is a huge step forward for the State of Texas.  A huge thanks to the Morris family, who’s son Greyson the law is named for, and everything they’ve done for our future little Texans.

Supplemental Newborn Screening is Available!

Because no state screens for every recommended disease, you can purchase supplemental newborn screening to ensure your child undergoes the most comprehensive screening available.  PerkinElmer Genetics offers various packages:

• Lysosomal Storage Disorders Only (includes Krabbe)
• Severe Combined Immunodeficieny Only (SCID)
• OneStep (includes over 50 metabolic and genetic disorders, the six Lysosomal Storage Disorders, and SCID)

Visit PerkinElmer and Hunter’s Hope to learn more.

You can also review the Supplemental Newborn Screening brochure below for additional information:

Supplemental Newborn Screening Tests Brochure