Ending the Diagnostic Delay
Newborns are disproportionately affected by rare monogenic diseases, such as inborn errors of metabolism, hematologic disorders, and hearing loss. A diagnosis is critical in order to begin treatment early and prevent mortality or lifelong morbidity. Unfortunately, the current diagnostic tests for newborns are limited in scope and scalability. Molecular diagnoses often require time-consuming and expensive serial single gene testing, which can result in reducing the available treatment window and increasing the risk of long-term effects.
The NewbornDx™ Test is designed to address multiple genetic conditions that may present in the newborn period, many of which have overlapping phenotypes and immediate implications for the baby's treatment. It allows a clinician to utilize one test to provide an accurate molecular profile of 1722 genes, including non-exonic regions when applicable, using dried blood spots with results within 10 days.
Indications for Testing
Newborn admitted to the NICU or an older infant/child with a history of congenital or early infantile onset of symptoms that suggest an underlying genetic cause (with or without dysmorphic facial features) and for whom a specific clinically-recognizable syndromic diagnosis is not suspected
*See Test Information for additional details
Patient: Dried blood spot and EDTA microtainer OR Whole blood in 3ml EDTA tube
Parents (if available): Whole blood in 3ml EDTA tube
|CPT:||Please call 857.288.0838|
NewbornDx™ and NewbornDx+ are being offered through Progenity, Inc. http://progenity.com
The Match™-ALPL Test is designed to assist in diagnosis and treatment of patients with hypophosphatasia (HPP) through sequencing of the ALPL gene. This test helps to identify patients who will benefit from pharmaceutical intervention for HPP, while expanding knowledge of genotype-phenotype correlations. Match™-ALPL is provided for trios or on a proband only basis.
Indications for Testing
- Skeletal: Bowing of long bones, fractures, osteopenia, rickets, premature tooth loss
- Metabolic: Reduced ALP activity, hypercalcemia, hypercalciuria
- Other: Blue sclerae, hypotonia, lax ligaments
Patient: Dried blood spot & EDTA microtainer OR Whole blood in EDTA tube (minimum 2mL)
Parents (if available): Whole blood in EDTA tube (minimum 2mL)