Common Carrier Screening Panel

The Common carrier screening panel is designed to detect carriers of disorders commonly tested by carrier screening. These disorders are severe, childhood onset disorders with autosomal recessive or X-linked inheritance that have been recommended or suggested by the American College of Obstetrics and Gynecology (ACOG) or the American College of Genetics and Genomics (ACMG) for inclusion on carrier screening panels. This test will identify individuals who are at risk of having a child with these disorders. The test includes assessment of Fragile X CGG repeat number, SMA copy number and silent carrier risk, and full gene sequencing with large deletion/duplication analysis of the rest of the disorders on the panel. This panel has high sensitivity for individuals of all ethnic backgrounds. This test is intended for pre/post-conception carrier screening and is not intended for diagnostic testing.

Gene Disorder MIM Inheritance
ASPA Canavan disease 271900 AR
BCKDHA Maple syrup urine disease, type Ia 248600 AR
BLM (RECQL3) Bloom syndrome 210900 AR
CFTR Cystic Fibrosis 219700 AR
  Congenital bilateral absence of vas deferens 277180 AR
DMD Duchenne muscular dystrophy 310200 XLR
  Becker muscular dystrophy 300376 XLR
  Cardiomyopathy, dilated, 3B 320045 XL
ELP1 (IKBKAP) Familial dysautonomia 223900 AR
FANCC Fanconi anemia C 227645 AR
FMR1 Fragile X syndrome 300624 XL
  Fragile X tremor/ataxia syndrome 300623 XL
  Premature ovarian failure 1 311360 XL
GBA Gaucher disease, type I 230800 AR
  Gaucher disease, type II 230900 AR
  Gaucher disease, type III 231000 AR
  Gaucher disease, type IIIC 231005 AR
  Gaucher disease, perinatal lethal 608013 AR
HBA1/HBA2 Alpha thalassemia 604131 AR
  Hemoglobin H disease 613978 AR
  Hemoglobin Bart's hydrops fetalis syndrome 236750 AR
HBB Beta thalassemia 613985 AR
  Sickle cell anemia 603903 AR
HEXA Tay-Sachs disease 272800 AR
MCOLN1 Mucolipidosis IV 252650 AR
PAH Phenylketonuria 261600 AR
SMN1 Spinal muscular atrophy 1 253300 AR
  Spinal muscular atrophy 2A 253550 AR
  Spinal muscular atrophy 3 253400 AR
  Spinal muscular atrophy 4 271150 AR
SMN2 Modifier of spinal muscular atrophy 253400 --
SMPD1 Niemann-Pick disease, type A 257200 AR
  Niemann-Pick disease, type B 607616 AR




81200 x 1,81406 x 1,81209 x 1,81408 x 1,81242 x 1,81243 x 1,81251 x 1,81257 x 1,81361 x 1,81255 x 1,81260 x 1,81290 x 1,81329 x 1,81330 x 1


Test Code

Additional Test Codes
Please call for pricing

Turnaround Time
Typically within 2 weeks from receipt of a sample in the laboratory.

Prenatal Specimens
SpecimensWhole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.