Horizon 14 Carrier Screen Build info

Synonyms

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

Short Name

HORIZON 14 CARRIER SCREEN

Procedure Master Number

LAB14192

Procedure ID

183745

Clinical Info

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

Specimen Type

Blood

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 Laboratory

Natera Laboratory

CPT

81479

PDM

245600

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