Prenatal: Beacon Focus Carrier Screening (Male or Female) Panel

The Beacon Focus Carrier Screening Panel is a screening panel that analyzes up to 30 genes that can be passed from parent to fetus at an increased frequency in the general population.  These conditions can lead to early childhood disorders that may affect an  offspring’s morbidity, mortality, or treatment options.

Preferred Specimen

Buccal Swab

Turn-around Time

14 – 21 days

Requisition Forms

l

Doctor & Patient

Use this form if you have both the Provider and Patient information.

l

Doctor Only

Use  this form if you don’t have or cannot provide the Patient’s contact information.

l

Record Release Form

Consent to the release of records.

Gene Selection

Male – 28 Genes

ACADM ASPA ASS1 BLM CFTR CLN3 DHCR7 ELP1
FAH FANCC G6PC GAA GALT GBA HBA1 HBA2
HBB HEXA IDUA IVD MMACHC PAH PEX1 PEX7
PKHD1 PMM2 SMN1 SMPD1
Female – 30 Genes

ACADM ASPA ASS1 BLM CFTR CLN3 DHCR7 DMD
ELP1 FAH FANCC FMR1 G6PC GAA GALT GBA
HBA1 HBA2 HBB HEXA IDUA IVD PRKRA MMACHC
PAH PEX1 PEX7 PKHD1 PMM2 SMN1 SMPD1

Disorders Tested

  • Beta Thalassemia
  • Bloom Syndrome
  • Canavan Disease
  • Citrullinemia
  • Congenital Disorder of Glycosylation Type 1A
  • Cystic Fibrosis
  • Duchenne Muscular Dystrophy
  • Familial Dysautonomia
  • Fanconi Amenia Group C
  • Fragile X Syndrome
  • Galactosemia
  • Gaucher Disease
  • Glycogen Storage Disease, Type 1A
  • Hemoglobin C Disease
  • Isovaleric Acidemia
  • Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
  • Methylmalonic Aciduria and Homocystinuria, cblC Type
  • Mucopolysaccharidosis, Type 1 (Hurler Syndrome)
  • Neuronal Ceroid Lipofuscinosis
  • Niemann-Pick Disease, Type A/B
  • Phenylalanine Hydroxylase Deficiency (Phenylketonuria)
  • Polycystic Kidney Disease, PKHD1-Related
  • Pompe Disease
  • Rhizomelic Chondrodysplasia Punctata, Type 1
  • Sickle Cell Disease
  • Smith-Lemli-Opitz Syndrome
  • Spinal Muscular Atrophy
  • Tay-Sachs Disease
  • Tyrosinemia, Type 1
  • Zellweger Syndrome, PEX1- Related
Blue Ridge Prenatal: Beacon Focus Carrier Screening (Male or Female) Panel (M) FT-TP01009 (F) FT-TP01004

Frequently Asked Questions

How much does it cost?

Blue Ridge Laboratories accepts all major insurance, Medicare, and Medicaid. We believe that healthcare should be accessible to all patients. We have created special access programs to cover unforeseen co-payments and uninsured patients. Please contact us for any billing questions.

How do you bill insurance?

Blue Ridge Laboratories will collect the patient’s insurance information and submit for the patient.

Who has to order the testing?

The order (requisition) forms will be completed by the referring physician, physician assistant, or nurse practitioner.

Where can I get the testing?

Patents can request test kits online by clicking the link to GET MY TEST or request from their medical provider.

How long does it take to get results?

Result times vary but for the majority of the testing we offer, turnaround times are between 14 and 21 days.

Who will talk with me about the test results?

Blue Ridge Laboratories has genetic counselors available to help interpret results and answer questions for patients or providers.

Can my family be tested?

If you have a hereditary disorder with an identified genetic variant, your family can obtain genetic testing through their physician, physician assistant, or nurse practitioner.

Can I get more than one test?

Yes, we have plenty of patients who meet medical necessity requirements for multiple panels. However, each test requires an individual buccal (cheek) swab and requisition form signed by the patient and the provider.