Tests

ALMS1 sequencing for Alstrom syndrome
Angelman Syndrome Tier 2 Panel
ARFGEF2 deletion/duplication analysis
ARFGEF2 sequencing
ARHGEF9 sequencing
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
Autosomal Recessive non-syndromic hydrocephalus sequencing panel
Autosomal Recessive Non-Syndromic Intellectual Disability Panel
Baraitser Winter syndrome sequencing panel
BIN1 deletion/duplication analysis
BIN1 sequencing
BRCA1 and BRCA2 testing (3 Ashkenazi Jewish mutations)
BRCA1 and BRCA2 testing (familial mutations)
CASC5 sequencing
CASK deletion/duplication analysis
CASK sequencing
CDK5RAP2 deletion/duplication analysis
CDK5RAP2 sequencing
CDKL5 deletion/duplication analysis
CDKL5 sequencing
CENPJ deletion/duplication analysis
CENPJ sequencing
CEP135 sequencing
CEP152 deletion/duplication analysis
CEP152 sequencing analysis
CEP63 deletion/duplication analysis
CEP63 sequencing
Cerebellar/Pontocerebellar Hypoplasia Panel
CHD7 deletion/duplication analysis
CHD7 sequencing
Classic Lissencephaly Panel
Cobblestone Lissencephaly Sequencing Panel
Comprehensive Lipodystrophy Panel
Comprehensive Lissencephaly Panel
Comprehensive Non-Syndromic Intellectual Disability Panel
Comprehensive Primordial Dwarfism Sequencing panel
Congenital Generalized Lipodystrophy Panel
CREBBP deletion/duplication analysis
CREBBP sequencing
Custom mutation analysis
DCAF17 sequencing for Woodhouse-Sakati syndrome
DCX deletion/duplication analysis
DCX(XLIS) sequencing
DNM2 deletion/duplication analysis
DNM2 sequencing
Early Infantile Epileptic Encephalopathy (EIEE) Panel
EBP deletion/duplication analysis
EBP sequencing
EP300 deletion/duplication analysis
EP300 sequencing
ESCO2 deletion/duplication analysis
ESCO2 sequencing
Exonic Deletion/Duplication Analysis by Array-CGH
EZH2 deletion/duplication analysis
EZH2 sequencing
FOXG1 deletion/duplication analysis
FOXG1 sequencing
FOXP3 sequencing for IPEX syndrome
FTL deletion/duplication analysis
FTL sequencing
GJB2 deletion/duplication analysis
GJB2 sequencing (Connexin 26)
GPIbβ deletion/duplication analysis
GPIbβ sequencing
GPR56 deletion/duplication analysis
GPR56 sequencing
GRIN2A sequencing
Imprinting Center (IC) deletion analysis
Joubert/Meckel-Gruber syndrome Sequencing Panel
KCNJ11 deletion/duplication analysis
KCNJ11 sequencing
KCNQ2 sequencing
KDM6A sequencing for Kabuki syndrome
KIAA1279 deletion/duplication analysis
KIAA1279 sequencing
L1CAM sequencing for X-linked hydrocephalus
LIS1 deletion/duplication analysis
LIS1 sequencing
LMNA deletion/duplication analysis
LMNA sequencing (Lamin A/C)
MAGI2 sequencing
MCPH Tier 2 Panels
MCPH1 deletion/duplication analysis
MCPH1 sequencing
MCT8 deletion/duplication analysis
MCT8 testing (thyroid testing and sequencing)
Meckel-Gruber syndrome Sequencing Panel
MECP2 deletion/duplication analysis
MECP2 duplication analysis for males
MECP2 sequencing
MED17 deletion/duplication analysis
MED17 sequencing
MEF2C deletion/duplication analysis
MEF2C sequencing
Meier-Gorlin Syndrome Sequencing Panel
MLL sequencing for Wiedemann-Steiner syndrome
MLL2 deletion/duplication analysis
MLL2 sequencing
MS-MLPA
MTM1 deletion/duplication analysis
MTM1 sequencing
NDE1 deletion/duplication analysis
NDE1 sequencing
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Sequencing Panel
Next Generation Sequencing Panels
NIPBL deletion/duplication analysis
NIPBL sequencing
NKX2.5 deletion/duplication analysis
NKX2.5 sequencing
NSD1 deletion/duplication analysis
NSD1 sequencing
NSDHL deletion/duplication analysis
NSDHL sequencing
OCLN deletion/duplication analysis
OCLN sequencing
OFD1 deletion/duplication analysis
OFD1 sequencing
OPHN1 deletion/duplication analysis
OPHN1 sequencing
PANK2 deletion/duplication analysis
PANK2 sequencing
Partial Lipodystrophy Panel
PAX6 sequencing for Aniridia
PCDH19 deletion/duplication analysis
PCDH19 sequencing
PCNT deletion/duplication analysis
PCNT sequencing
PIGL sequencing
PLA2G6 deletion/duplication analysis
PLA2G6 sequencing
PLCB1 sequencing
PNKP deletion/duplication analysis
PNKP sequencing
Polymicrogyria Panel
Rett/Angelman Syndrome Deletion/Duplication Panel
Rett/Angelman Syndrome Sequencing Panel
Rett/Atypical Rett Syndrome Panel
ROR2 deletion/duplication analysis
ROR2 sequencing
RYR1 deletion/duplication analysis
RYR1 sequencing
SCN1A sequencing
SCN2A sequencing
Seckel Syndrome Sequencing Panel
SETBP1 deletion/duplication analysis
SETBP1 sequencing
SLC12A6 deletion/duplication analysis
SLC12A6 sequencing
SLC19A2 sequencing for Thiamine-responsive megablastic anemia syndrome
SLC25A19 deletion/duplication analysis
SLC25A19 sequencing
SLC25A22 deletion/duplication analysis
SLC25A22 sequencing
SLC29A3 sequencing for PHID
SLC2A1 deletion/duplication analysis
SLC2A1 sequencing
SLC9A6 deletion/duplication analysis
SLC9A6 sequencing
SMC1A deletion/duplication analysis
SMC1A sequencing
SMC3, RAD21 and HDAC8 sequencing for Cornelia de Lange syndrome
SPTAN1 deletion/duplication analysis
SPTAN1 sequencing
SRCAP sequencing
STAMBP deletion/duplication analysis
STAMBP sequencing
STIL deletion/duplication analysis
STIL sequencing
STXBP1 deletion/duplication analysis
STXBP1 sequencing
TCF4 deletion/duplication analysis
TCF4 sequencing
TSEN54 deletion/duplication analysis
TSEN54 sequencing
TUBA1A deletion/duplication analysis
TUBA1A sequencing
TUBB2B deletion/duplication analysis
TUBB2B sequencing
TUBB3 deletion/duplication analysis
TUBB3 sequencing
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
Warburg Micro Syndrome Sequencing Panel
WDR62 deletion/duplication analysis
WDR62 sequencing
WNT5A deletion/duplication analysis
WNT5A sequencing
X-Linked Non-Syndromic Intellectual Disability Panel
ZEB2 deletion/duplication testing
ZEB2 sequencing

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List of tests, costs, TAT, CPT codes

In the Spotlight

Next Generation Sequencing panels
Cornelia de Lange syndrome
Early Infantile Epileptic Encephalopathy
Microcephaly
Brain Malformation
Kabuki syndrome
Exonic Deletion/Duplication analysis

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