Horizon 14 Carrier Screen

Synonyms

  • Carrier Screen
  • H14
  • HORIZON 14 CARRIER SCREEN
  • LAB14192
  • Naters

Cerner Name

Horizon 14 Carrier Screen

Clinical Info

Horizon provides comprehensive screening using the latest technology, includingnext-generation sequencing. Horizon screens for genes associated with specificinherited genetic conditions.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender (EDTA) Top Tube
Specimen: 10 mL whole blood (4 mL min)
Ask at order entry question required:
         Patient Ethnicity Patient Pregnant (Y/N)

Transport Instructions

Room Temperature

Specimen Stability

72 Hours
Room Temperature
7 Days
Refrigerated
Buccal Swab- 6 Days Room Temperature

Methodology

Next Generation sequencing Array CGH-SNP

Days Performed

TAT: 15-22 Days

Performing Laboratories
  • Natera Laboratory

CPT

81443

PDM

245600

Results
Component Name Base Name Common Name External Name
REPORT SUMMARY REPRTSUM REPORT SUMMARY Report Summary
CYSTIC FIBROSIS CYSTICFIB CYSTIC FIBROSIS Cystic Fibrosis
DUCHENNE/BECKER MUSCULAR DYSTROPHY DUCHBECKMD DUCHENNE BECKER MUSCULAR DYSTROPHY Duchenne/Becker Muscular Dystrophy
FRAGILE X SYNDROME FRAGILEX FRAGILE X SYNDROME Fragile X Syndrome
HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY SMA SMA, ATROPHY Spinal Muscular Atrophy
ALPHA-THALASSEMIA ATHALASS ALPHA THALASSEMIA Alpha-Thalassemia
BETA-HEMOGLOBINOPATHIES BHEMOGLOB BETA HEMOGLOBINOPATHIES Beta-Hemoglobinopathies
CANAVAN DISEASE CANAVAN CANAVAN DISEASE Canavan Disease
HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA FAMDYSA HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA Familial Dysautonomia
GAUCHER DISEASE GAUCHER GAUCHER DISEASE Gaucher Disease
GALACTOSEMIA GALACTOSEMIA GALACTOSEMIA Galactosemia
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF ACYLCOA MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF Medium Chain Acyl-CoA Dehydrogenase Deficiency
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC POLYCYSKID POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC Polycystic Kidney Disease, Autosomal Recessive
SMITH-LEMLI-OPITZ SYNDROME SLOS SLOS, SYNDROME Smith-Lemli-Opitz Syndrome
TAY-SACHS DISEASE TAYSACHSDIS TAY SACHS DISEASE Tay-Sachs Disease
PANEL NOTES PANELNOTE PANEL NOTES Panel Notes
REPORT NOTES REPORTNOTE REPORTNOTE, NOTES Report Notes
NATERA FOOTNOTES FOOTNOTES NATERA FOOTNOTES Natera Footnotes
PDF REPORT PDF PDF, REPORT PDF

Result Interpretation

See Report

Test Includes: Cystic Fibrosis, Duchenne/BecKer Muscular Dystrophy, Fragile X Syndrome, Spinal Muscular Athrophy, Alpha-Thalassemia, Beta Hemoglobinopathies, Canavan Disease, Familial Dysautonomis, Gauchers Disease, Galactosemia, Medium Chain Acyl-CoA Dehydrogenase Def, Polycystic Kidney Disease, Autosomal Rec., Smith-Lemli-Opitz Syndrome and Tay Sachs Disease

Forms
Not Assigned LAB14192 build edit