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Test Code

6ECT

Test Name

Extended Carrier Screening Panel

CPT Codes

81243, 81479

Clinical Utility

Genetic analysis to provide a molecular diagnosis of these disorders. Recommended for individuals with a personal and/or family history of these disorders to ensure appropriate treatment and establish recurrence risk for family members.

Specimen and Container Info

Preferred/Alternate	Specimen Type	Containers	Volume
Preferred Specimen Type	Whole Blood	Lavender Top (EDTA)	3 mL
Alternate Specimen Type	Genomic DNA	1.5 mL Tube	3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions

Transport at room temperature within 24 hours.
If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.

Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection

Improperly labeled specimen (minimum of two patient identifiers)
Inappropriate specimen type
Incomplete or incorrect test request form
Insufficient volume
Specimen has leaked in transit
Specimen without a test order

Methodology

Next Generation Sequencing and Copy Number Variation Analysis

Performing Location

Genomics - Snowdrift

Description

The Extended carrier screening panel is designed to detect carriers of all the genes on the Common carrier screening panel plus an additional 29 genes to provide a more comprehensive evaluation of genetic carrier status. These disorders are primarily severe, childhood onset disorders with autosomal recessive or X-linked inheritance. 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
ACADM	Medium-chain acyl-CoA dehydrogenase deficiency	201450	AR
ARSA	Metachromatic leukodystrophy	250100	AR
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	253200	AR
ASPA	Canavan disease	271900	AR
ASS1	Citrullinemia	215700	AR
BCKDHA	Maple syrup urine disease, type Ia	248600	AR
BCKDHB	Maple syrup urine disease, type Ib	248600	AR
BLM (RECQL3)	Bloom syndrome	210900	AR
BTD	Biotinidase deficiency	253260	AR
CFTR	Cystic Fibrosis Congenital bilateral absence of vas deferens	219700 277180	AR AR
DHCR7	Smith-Lemli-Opitz syndrome	270400	AR
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B	310200 300376 302045	XLR XLR XL
ELP1 (IKBKAP)	Familial dysautonomia	223900	AR
FANCC	Fanconi anemia C	227645	AR
FMR1	Fragile X syndrome Fragile X tremor/ataxia syndrome Premature ovarian failure 1	300624 300623 311360	XL XL XL
G6PC	Glycogen storage disease Ia	232200	AR
GAA	Glycogen storage disease II	232300	AR
GALC	Krabbe disease	245200	AR
GALE	Galactose epimerase deficiency	230350	AR
GALK1	Galactokinase deficiency with cataracts	230200	AR
GALT	Galactosemia	230400	AR
GAMT	Cerebral creatine deficiency syndrome 2	612736	AR
GATM	Cerebral creatine deficiency syndrome 3	612718	AR
GBA	Gaucher disease, type I Gaucher disease, type II Gaucher disease, type III Gaucher disease, type IIIC Gaucher disease, perinatal lethal	230800 230900 231000 231005 608013	AR AR AR AR AR
GLA	Fabry disease	301500	XL
HBA1/HBA2	Alpha thalassemia Hemoglobin H disease Hemoglobin Bart%u2019s hydrops fetalis syndrome	604131 613978 236750	AR AR AR
HBB	Beta thalassemia Sickle cell anemia	613985 603903	AR AR
HEXA	Tay-Sachs disease	272800	AR
HFE	Hemochromatosis	235200	AR
IDS	Mucopolysaccharidosis II	309900	XLR
IDUA	Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Is	60714 60715 607016	AR AR AR
IVD	Isovaleric acidemia	243500	AR
MCOLN1	Mucolipidosis IV	252650	AR
MMACHC	Methylmalonic aciduria with homocystinuria, cblC type	277400	AR
OTC	Ornithine transcarbamylase deficiency	311250	XLR
PAH	Phenylketonuria	261600	AR
PHKA2	Glycogen storage disease, type IXa	306000	XLR
PHKG2	Glycogen storage disease IXc	613027	AR
PKHD1	Polycystic kidney disease 4, with or without hepatic disease	263200	AR
PYGL	Glycogen storage disease VI	232700	AR
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic	232220 232240	AR AR
SLC6A8	Cerebral creatine deficiency syndrome 1	300352	XLR
SMN1	Spinal muscular atrophy 1 Spinal muscular atrophy 2 Spinal muscular atrophy 3 Spinal muscular atrophy 4	253300 253550 253400 271150	AR AR AR AR
SMN2	Modifier of spinal muscular atrophy	253400	--
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B	257200 607616	AR AR
SUMF1	Multiple sulfatase deficiency	272200	AR

Testing Schedule

Monday-Friday

Genes

SLC37A4, GAA, ELP1, PHKG2, IVD, OTC, PKHD1, HEXA, ARSB, G6PC, GALC, SUMF1, SLC6A8, ASPA, FMR1, HBA1, CFTR, BTD, BCKDHA, ASS1, HBB, MMACHC, DHCR7, BCKDHB, ACADM, IDS, MCOLN1, FANCC, DMD, PAH, GBA, GALE, PHKA2, BLM, ARSA, IDUA, GALT, SMN1, GAMT, HBA2, PYGL, GATM, SMPD1, GLA, SMN2, GALK1

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. View the Terms.
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