MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies

Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

F11DX - Overview: 11-Desoxycortisol

11-Desoxycortisol

VIGA - Overview: Vigabatrin (Sabril)

Vigabatrin (Sabril)

HBEL1 - Overview: Hemoglobin Electrophoresis Evaluation, Blood

Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants

SUP24 - Overview: Supersaturation Profile, 24 Hour, Urine

Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program...