Number of Panel Genes47

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 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

Gene(s)

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

Methodology

Billing

CPT Code(s)
81200 x 1, 81400 x 1, 81405 x 1, 81406 x 1, 81209 x 1, 81404 x 1, 81220 x 1, 81408 x 1, 81242 x 1, 81243 x 1, 81250 x 1, 81251 x 1, 81401 x 1, 81257 x 1, 81361 x 1, 81255 x 1, 81260 x 1, 81290 x 1, 81329 x 1, 81330 x 1, 81479 x 1

Ordering

Test Code
6001

Additional Test Codes
Please call for pricing

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

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

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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.

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