Clinicians

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.

NewbornDx™

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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.

NewbornDx Aid

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

SAMPLE REQUIREMENTS:

Patient: Dried blood spot and EDTA microtainer OR whole blood in 3ml EDTA tube
Parents (if available): Whole blood in 3ml EDTA tube

CPT: 81425 (Genome, sequence analysis of 1722 genes)
TAT: 7-10 days
NewbornDx™ HL

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The NewbornDx™ HL Test is designed to address congenital and childhood-onset hearing loss, including syndromic and non-syndromic causes, and may be used for individuals with confirmed hearing loss or as a 2nd tier tool in newborns who refer on audiometric newborn screening. 

NewbornDx HL Aid

Indications for Testing

Newborn who referred on audiologic screening or
Older infant/child with history of:

  • Mild to profound sensorineural hearing loss
  • Prelingual onset
  • Clinical findings not suggestive of a specific syndrome
SAMPLE REQUIREMENTS:

Patient: Dried blood spot and EDTA microtainer or whole blood in EDTA microtainer
Parents (if available): Whole blood

CPT: 81430 (Targeted sequencing of 106 hearing loss genes)
TAT: 7-10 days
RareDx™

RequisitionREQUISITIONConsentCONSENTSample and ShippingSAMPLE AND SHIPPING

The RareDx™ is a clinical exome sequencing test, which simultaneously analyzes the majority of the genes in the genome. This is a cost-effective and comprehensive method to detect the underlying cause of a patient’s clinical features when a specific test addressing those features is not available or prior testing has not provided a diagnosis.

Indications for Testing

  • Clinical features and/or family history strongly suggest a genetic cause
  • Patient has had multiple genetic tests without a clear diagnosis found
  • A genetic condition is suspected but targeted testing is not available clinically
SAMPLE REQUIREMENTS:

Patient: Whole blood 
Parents (if available): Whole blood

CPT: 81415 (Clinical Exome)
TAT: 4 weeks