Extended Carrier Screening panel
Number of Panel Genes46
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)
Methodology
Billing
Ordering
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
