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Angelman Syndrome Tier 2 Panel
ARSE deletion/duplication analysis
ARSE sequencing
ARX deletion/duplication analysis
ARX sequencing
ASPM deletion/duplication analysis
ASPM sequencing
ATP7A deletion/duplication analysis
ATP7A sequencing
ATP7B deletion/duplication analysis
ATP7B sequencing
ATR sequencing analysis
BIN1 deletion/duplication analysis
BIN1 sequencing
BRCA1 and BRCA2 testing (3 Ashkenazi Jewish mutations)
BRCA1 and BRCA2 testing (familial mutations)
CASK deletion/duplication analysis
CASK sequencing
CDK5RAP2 deletion/duplication analysis
CDK5RAP2 sequencing
CDKL5 deletion/duplication analysis
CDKL5 sequencing
CENPJ deletion/duplication analysis
CENPJ sequencing
CEP152 sequencing analysis
CHD7 deletion/duplication analysis
CHD7 sequencing
CREBBP deletion/duplication analysis
CREBBP sequencing
Custom mutation analysis
DCX deletion/duplication analysis
DCX(XLIS) sequencing
DNM2 deletion/duplication analysis
DNM2 sequencing
Early Infantile Epileptic Encephalopathy (EIEE) Testing
EBP deletion/duplication analysis
EBP sequencing
EP300 deletion/duplication for Rubinstein-Taybi syndrome
EP300 sequencing
ESCO2 deletion/duplication analysis
ESCO2 sequencing
Exonic Deletion/Duplication Analysis by Array-CGH
EZH2 sequencing for Weaver syndrome
FOXG1 deletion/duplication analysis
FOXG1 sequencing
FTL sequencing
GJB2 deletion/duplication analysis
GJB2 sequencing (Connexin 26)
GPIbβ deletion/duplication analysis
GPIbβ sequencing
GPR56 deletion/duplication analysis
GPR56 sequencing
Imprinting Center (IC) deletion analysis
KCNJ11 deletion/duplication analysis
KCNJ11 sequencing
KIAA1279 sequencing
LIS1 deletion/duplication analysis
LIS1 sequencing
Lissencephaly panel (LIS1, TUBA1A, and DCX sequencing and LIS1/DCX deletion/duplication analysis)
LMNA deletion/duplication analysis
LMNA sequencing (Lamin A/C)
MCPH1 deletion/duplication analysis
MCPH1 sequencing
MCT8 deletion/duplication analysis
MCT8 testing
MECP2 deletion/duplication analysis
MECP2 duplication analysis for males
MECP2 sequencing
MEF2C deletion/duplication analysis
MEF2C sequencing
Microcephaly tier 2 Panel
MLL2 sequencing
MS-MLPA
MTM1 deletion/duplication analysis
MTM1 sequencing
NDE1 sequencing
Next-Generation sequencing panels for Brain Malformations, Early Infantile Epileptic Encephalopathy and Intellectual Disability
NIPBL deletion/duplication analysis
NIPBL sequencing
NKX2.5 sequencing
NSD1 deletion/duplication analysis
NSD1 sequencing
NSDHL deletion/duplication analysis
NSDHL sequencing
OCLN sequencing
OFD1 deletion/duplication analysis
OFD1 sequencing
OPHN1 deletion/duplication analysis
OPHN1 sequencing
PANK2 deletion/duplication analysis
PANK2 sequencing
PCDH19 sequence analysis
PCNT sequencing
PLA2G6 deletion/duplication analysis
PLA2G6 sequencing
PNKP sequencing
Pontocerebella Hypoplasia Tier 2 Panel
Rett/Atypical Rett Syndrome Panel
ROR2 deletion/duplication analysis
ROR2 sequencing
RYR1 sequencing for centronuclear myopathy
SETBP1 sequencing
SLC25A22 Sequencing
SLC2A1 deletion/duplication analysis
SLC2A1 sequencing
SLC9A6 deletion/duplication analysis
SLC9A6 sequencing
SMC1A deletion/duplication analysis
SMC1A sequencing
SPTAN1 sequencing
STIL deletion/duplication analysis
STIL sequencing
STXBP1 deletion/duplication analysis
STXBP1 sequencing
TCF4 deletion/duplication analysis
TCF4 sequencing
Tier 2 Seckel Syndrome Panel
TSEN54 deletion/duplication analysis
TSEN54 sequencing
TUBA1A sequencing
TUBB2B sequencing
TUBB3 sequencing for cortical dysplasia
UBE3A deletion/duplication analysis
UBE3A sequencing
UGT1A1 deletion/duplication analysis
UGT1A1 genotyping for Gilbert syndrome
UGT1A1 genotyping for irinotecan dosing
UGT1A1 sequencing
UPD14 testing
UPD15 testing
UPD6 testing
UPD7 testing
WDR62 sequencing
ZEB2 deletion/duplication testing
ZEB2 sequencing
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or Choose a Disorder
Allan-Herndon-Dudley syndrome
Angelman syndrome
asymmetrical polymicrogyria
atypical Rett syndrome
autosomal recessive microcephaly infantile-onset seizures and developmental delay
autosomal recessive primary microcephaly
Band-like calcification with simplified gyration and polymicrogyria syndrome
Bernard-Soulier syndrome
bilateral frontoparietal polymicrogyria
brachydactyly type B1
CDPX1
CDPX2
centronuclear myopathy
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type B
Charcot-Marie-Tooth type 2B1
CHARGE syndrome
CHILD syndrome
Complex cortical dysplasia with other brain malformations
congenital variant Rett syndrome
Cornelia de Lange syndrome
Crigler-Najjar syndrome
Dilated cardiomyopathy (DCM)
early infantile epileptic encephalopathy
Emery-Dreifuss Muscular Dystrophy (EDMD)
encephalopathy
familial breast cancer
familial partial lipodystrophy (FLPD) Dunnigan type
Gilbert syndrome
glucose transporter type 1 deficiency syndrome
Goldberg Shprintzen megacolon syndrome
Hallervorden-Spatz syndrome
hearing loss
Hutchinson-Gilford progeria syndrome (HGPS)
Infantile neuroaxonal dystrophy
Infantile spasms
isolated congenital heart defects
Joubert syndrome
Kabuki syndrome
Limb Girdle Muscular Dystrophies (LGMD)
lissencephaly
Mandibuloacral dysplasia (MAD)
MCSZ
MCT8-specific thyroid hormone cell transporter deficiency
Menkes disease
Microcephalic Osteodysplastic Primordial Dwarfism type II
microcephaly
Mowat-Wilson syndrome
myotubular myopathy
NBIA
neonatal diabetes
Neurodegeneration with brain iron accumulation type 2 (NBIA2)
Neuroferritinopathy
Oral-Facial-Digital Syndrome Type 1
Pantothenate Kinase-Associated Neurodegeneration
Pitt-Hopkins Syndrome
PKAN
polymicrogyria
pontocerebellar hypoplasia
Prader-Willi syndrome
Rett syndrome
Roberts syndrome
Robinow syndrome
Rubinstein Taybi syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Schinzel-Giedion syndrome
Seckel Syndrome
Simpson-Golabi-Behmel Syndrome Type 2
Sotos syndrome
Transient neonatal diabetes
UPD14
Weaver syndrome
West syndrome
Wilson disease
X-linked Angelman-like syndrome
X-linked dominant chondrodysplasia punctata (CDPX2)
X-linked Female-Limited Epilepsy with Mental Retardation
X-linked Joubert syndrome
X-linked lissencephaly
X-linked mental retardation
X-linked mental retardation and microcephaly with pontine and cerebellar hypoplasia
X-linked myotubular myopathy
X-linked recessive chondrodysplasia punctata (CDPX1)
XLAG
XLAG lissencephaly
XLMR
XLMR with cerebellar hypoplasia
or Choose a Gene
ARSE
ARX
ASPM
ATP7A
ATP7B
ATR
BIN1
BRCA1
BRCA2
CASK
CDK5RAP2
CDKL5
CENPJ
CEP152
CHD7
CREBBP
Cx26
DCX
DNM2
EBP
EP300
ESCO2
EZH2
FOXG1
FTL
GJB2
GP1bP
GPIbβ
GPR56
KCNJ11
KIA12799
KIAA12799
LIS1
LMNA
MCPH1
MCT8
MECP2
MEF2C
MLL2
MTM1
NDE1
NIPBL
NKX2.5
NSD1
NSDHL
OCLN
OFD1
OPHN1
PANK2
PCDH19
PCNT
PLA2G6
PNKP
ROR2
SETBP1
SLC25A22
SLC2A1
SLC9A6
SMADIP1
SMC1A
SPTAN1
STIL
STK9
STXBP1
TCF4
TSEN2
TSEN34
TSEN54
TUBA1A
TUBB2B
TUBB3
UBE3A
UGT1A1
WDR62
ZEB2
ZFHX1B
or Choose a Category
Angelman syndrome and Prader-Willi syndrome testing
atypical Rett syndrome testing
Brain Malformation Testing
Centronuclear/myotubular myopathy testing
Chondrodysplasia punctata testing
Cornelia de Lange syndrome testing
Custom mutation analysis
early infantile epileptic encephalopathy testing
exonic deletion/duplication analysis
Microcephalic Osteodysplastic Primordial Dwarfism
Microcephaly Testing
Neurodegeneration with brain iron accumulation (NBIA) testing
UGT1A1 testing
UPD testing
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Forms
Forms
Test requisition form
Consent Form
List of tests, costs, TAT, CPT codes
In the Spotlight
In the Spotlight
Exonic Deletion/Duplication analysis
Kabuki syndrome
Early Infantile Epileptic Encephalopathy
Microcephaly
Brain Malformation
Cornelia de Lange syndrome
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