METABOLIC KITS

BIOTINIDASE DEFICIENCY |BIOMARKER: BIOTINIDASE (BIO)

Biotinidase deficiency is a disorder of biotin recycling. With biotinidase activity absent and no biotin in the diet, the clinical features of biotinidase deficiency appear. This method is for the semi-quantitative determination of Biotinidase activity in dried whole blood spots using a spectrophotometric plate reader.

PRODUCT HIGHLIGHTS

• Based on the Wolf Method
• 28-day prepared reagent stability – Two times the in-use stability of other vendor’s kits
• Colorimetric assay – Rapid visual correlation of positive results
• No reported false negatives for profound Biotinidase deficiency – Decades of quality production
• Automated with other SPOTCHECK® assays – Customizable workflows
• 60-plate plate versions available for automation on SPOTCHECK Pro – Throughput-based flexibility

 

CLASSIC GALACTOSEMIA* | BIOMARKER: GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT)

Transferase deficient galactosemia is due to the absence of galactose-1-phosphate uridyltransferase activity. This inborn defect of carbohydrate metabolism is expressed as an autosomal recessive trait. This method uses the same sequence of reactions as the Beutler screening test, varying only in the colorimetric detection step.

PRODUCT HIGHLIGHTS

• Based on the Beutler method
• Quick turnaround time – Allows for early identification of affected newborns
• Prepared reagents are stable for 7 and 14 days – Competition boasts 48 hours
• No false positive results due to GALT deficiency – Reduced repeats
• Automated with other SPOTCHECK assays – Customizable workflow
• 20- and 60-plate versions available for automation on SPOTCHECK Pro – Throughput-based flexibility

*NOTE: TYPE I, ABSENT/REDUCED GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE

 

GALACTOSEMIA** | BIOMARKER: TOTAL GALACTOSE: GALACTOSE + GALACTOSE-1-PHOSPHATE

Elevated Total Galactose results may be indicative of galactosemia. The most common form of galactosemia results from a deficiency in galactose-1-phosphate uridyltransferase, (GALT), however elevated blood Total Galactose may also result from deficiencies in galactokinase, (GALK) or UDP-galactose-4-epimerase, (GALE), which are relatively rare but potentially harmful variants. This method is a modification of several previously described methods of quantifying Total Galactose from whole blood spotted on filter paper.

PRODUCT HIGHLIGHTS

• Quick turnaround time – Allows for early identification of affected newborns
• 28-day prepared reagent stability – Three times the in-use stability of other vendor’s kits
• FDA-cleared high throughput assay – Decades of quality production and technical support
• 60-plate versions available for automation on SPOTCHECK Pro – Throughput-based flexibility

**NOTE: CLASSIC GALACTOSEMIA Conditions: TYPES I, II, AND III 

 

PHENYLKETONURIA (PKU) | Biomarker: Phenylalanine (PHE)

Classical PKU is characterized by a highly elevated blood Phenylalanine concentration which results from the absence of the hepatic enzyme Phenylalanine hydroxylase. The Phenylalanine Kit uses trichloroacetic acid (TCA) to extract Phenylalanine from dried blood spot samples. After extraction, the eluted sample is combined with the enzyme reagent Phenylalanine dehydrogenase. This enzyme reagent catalyzes the NAD dependent oxidative deamination of Phenylalanine to phenylpyruvate and ammonia. The NADH produced is measured colorimetrically and is directly proportional to the concentration of Phenylalanine present in the sample.

 EIA REAGENT KITS PRODUCT HIGHLIGHTS:

• FDA 510k Cleared
• 5-Plate Reagent Kits for the analysis of Dried Blood Spots
• 30-day prepared reagent stability – Reduced reagent prep frequency
• Options of 3 hour or overnight assay protocols – Flexible timeline to fit your laboratory’s needs
• Single plate elution allows for semi-plexing with other immunoassays – Reduced microplate usage with efficient workflow
• Multi-analyte calibrators and controls in DBS format – Simplified workflow with complementary assays