TÜM TESTLER
Her bir testin üzerine tıklandığında testle ilgili ayrıntılı bilgiye ulaşılabilmektedir. Bizim laboratuvarda yapılmayan testler, dünyanın en deneyimli laboratuvarlarında, anlaşmalı olduğumuz için indirimli olarak yaptırılır, takibi ve hastaya detaylı izahı yapılır. Klinik tablosu ve laboratuvar sonuçları karmaşık olgular ulusal ve uluslararası en deneyimli uzmanlarla tartışılarak, en güncel literatür bilgileri ışığında hasta ve aileye en doğru genetik danışma verilir.
A
AAAS Gene Sequencing
ABCA12 Gene Sequencing
ABCA12 Select Exon Sequencing
ABCC6 Gene Sequencing
ABCC6 Hot Spots (Tier I)
ABHD5 Gene Sequencing
ACAD8 Gene Sequencing
ACADM Gene Sequencing
ACADM Mutation Detection (T121I)
ACADM Remaining Exons Sequencing
ACADM Select Exons Sequencing
ACADS Gene Sequencing
ACADSB (M389V) Mutation Analysis
ACADSB Gene Sequencing
ACADVL Gene Sequencing
ACAT1 Gene Sequencing
AChE (automatic reflex after AF-AFP)
Achondrogenesis Panel
ACSF3 Gene Sequencing
ACTA1 Gene Sequencing
ACTA1 Gene Sequencing & NEB Mutation Analysis
ADA Gene Sequencing
adRP Tier 1
adRP Tier 2
adRP Tier 3
AGA Gene Sequencing
AGS Panel
AICDA Gene Sequencing
AIPL1 Gene Sequencing
AIRE Gene Sequencing
AIRE Remaining Exons
AIRE Select Exons
ALDH3A2 Gene Sequencing
ALOX12B Gene Sequencing
ALOXE3 Gene Sequencing
Amniotic fluid AFP
Angelman Syndrome Methylation Analysis
ANKRD11 Gene Sequencing
AR Gene Sequencing
AR Repeat Analysis
ARG1 Gene Sequencing
Arrhythmia Panel
arRP Del/Dup Panel
arRP Sequencing Panel
ARSA Gene Sequencing
ARSB Gene Sequencing
ARSE Gene Sequencing
ARSE Gene Sequencing & Del/Dup (Females)
ARVC Panel
ASL Gene Sequencing
ASPA Gene Sequencing & Del/Dup
ASS1 Gene Sequencing
Ataxia Xpanded Panel
ATP2A2 Gene Sequencing
ATP2C1 Gene Sequencing
AUH Gene Sequencing
Autism/ID Xpanded Panel
Axonal CMT Panel
B
B-negative SCID Panel
B-positive SCID Panel
BCKDHA Gene Sequencing
BCKDHB Gene Sequencing
BCOR Gene Sequencing & Del/Dup
BCOR P85L Mutation
BCOR Remaining Exons Sequencing
BCOR Select Exons Sequencing & Del/Dup
BEST1 Gene Sequencing
BLM Gene Sequencing
BMPR1A, SMAD4 Gene Sequencing & Del/Dup
BRCA1 and BRCA2 Del/Dup
BRCA1 and BRCA2 Sequencing
BRCA1/ BRCA2 Ashkenazi Founder Panel
BRCA1/2 Sequencing and Del/Dup analysis
Breast Cancer High Risk Panel
Breast Cancer High Risk Panel and PALB2
Breast Cancer High/Moderate Risk Panel
Breast Cancer Surgical Panel
Breast/Ovarian Cancer Panel
BrS Panel
BTD Gene Sequencing
BTK Gene Sequencing & Del/Dup
C
Custom Arrhythmia Panel *
Custom ARVC Panel *
Custom Brugada Syndrome (BrS) Panel *
Custom Cardiology Panel *
Custom Cardiomyopathy Panel *
Custom Combined Cardiac Panel *
Custom CPVT Panel *
Custom DCM/LVNC Panel *
Custom Familial Hypercholesterolemia (FH) Panel *
Custom HCM Panel *
Custom HDCT Panel *
Custom LQTS Panel *
Custom Marfan/TAAD & Related Disorders Panel *
Custom SCA Arrhythmia Panel *
Custom SQTS Panel *
C9ORF72 Repeat Analysis
CABP4 Gene Sequencing
CACNA1F Gene Sequencing
Cardiomyopathy Panel
CASP10 Gene Sequencing
CASP8 Gene Sequencing
CASR Gene Sequencing
CBL/NRAS Gene Sequencing
CBS Gene Sequencing
CCM Tier 1
CCM Tier 2
CCM2 Gene Sequencing
CD40 Gene Sequencing
CD40LG Gene Sequencing
CDC73 (HRPT2) Gene Sequencing
CDC73 (HRPT2) Gene Sequencing and Del/Dup
CDC73 (HRPT2) Remaining Exons Sequencing
CDC73 (HRPT2) Select Exons Sequencing
CDKL5 Gene Sequencing
CDKN2A (p16) & CDK4 (Exon2) Sequencing
CDKN2A (p16) Gene Sequencing
CEP290 Hot Spots
Cerebral Cavernous Malformations (CCM) Panel
CERKL Gene Sequencing
CHD7 Gene Sequencing
Childhood-Onset Epilepsy Panel
CHM Gene Sequencing
Chondrodysplasia Punctata Panel
Chromosomal Microarray (GenomeDx)
Chromosome Analysis, Amniotic Fluid
Chromosome Analysis, Chorionic Villus Sample (CVS)
Chromosome Analysis, Peripheral Blood (routine)
Chromosome Analysis, Products of Conception (POC)
CLCN5 Gene Sequencing
CMT Panel
CNBP Repeat Analysis
CNGA1 Gene Sequencing
CNGA3 Gene Sequencing
CNGB3 Gene Sequencing
COL17A1 Gene Sequencing
COL4A5 Gene Sequencing
COL7A1 Gene Sequencing
Colorectal Cancer Panel
Combined Cardiac Panel
Combined Mito Genome Plus Mito Nuclear Gene Panel
COMP Gene Sequencing
Comprehensive Brain Malformations Panel
Comprehensive Cancer Panel
Comprehensive Epilepsy Panel
Comprehensive Hereditary Spastic Paraplegia Panel
Comprehensive Mitochondrial Nuclear Gene Panel
Comprehensive NF Panel
Comprehensive SCID Panel
Cone-Rod Dystrophy Sequencing Panel
Congenital Ichthyosis XomeDxSlice
Congenital Myasthenia Syndromes Panel
Congenital Myopathies & Muscular Dystrophies Panel
Congenital Sideroblastic Anemia Panel
Connexin Gene Testing
Core CMT Panel
Cornelia de Lange Syndrome Panel
Cortical Brain Malformations Panel
CPT1A Gene Sequencing
CPT2 Gene Sequencing
CPVT Panel
CRB1 Gene Sequencing
CREBBP Remaining Exons Sequencing
CREBBP Select Exons Sequencing & Del/Dup
CREBBP Sequencing & Del/Dup
CRX Gene Sequencing
CTSC Gene Sequencing
Custom ExonArrayDx
CYBA Gene Sequencing
CYBB Gene Sequencing
CYP17A1 Gene Sequencing
CYP19A1 Gene Sequencing
CYP1B1 Gene Sequencing
CYP27B1 Select Exons Sequencing
CYP4F22 Gene Sequencing
D
Deletion / Duplication
DBT Gene Sequencing
DCLRE1C Athabascan mutation
DCLRE1C Gene Sequencing & Deletion
DCM/LVNC Panel
Del/Dup Familial
Demyelinating CMT Panel
DHCR7 Gene Sequencing
DHH Gene Sequencing
Diamond-Blackfan Anemia Panel
DKC1 Gene Sequencing
DLD Gene Sequencing
DMD Del/Dup
DMD Gene Sequencing
DMP1 Gene Sequencing
DMPK Repeat Analysis
DOCK8 Gene Sequencing
DOCK8 Gene Sequencing and Del/Dup
E
EDA1 Gene Sequencing & Del/Dup (Female)
EDA1 Gene Sequencing (males)
EDAR Gene Sequencing
EDARADD Gene Sequencing
EFNB1 Gene Sequencing
ELANE (ELA2) Gene Sequencing
ELN Gene Sequencing
ELOVL4 Tier 1
ELOVL4 Tier 2
Endometrial Cancer Panel
Epidermolysis Bullosa (EB) XomeDxSlice
Epilepsy Del/Dup Panel
EpiXpanded Panel
ETFA Gene Sequencing
ETFB Gene Sequencing
ETFDH Gene Sequencing
ETHE1 Gene Sequencing & Del/Dup
EXT1 & EXT2 Sequencing & Del/Dup
EYA1 Gene Sequencing & Del/Dup
F
F12 Select Exons Sequencing
FAH Gene Sequencing
FAH Remaining Exons Sequencing
FAH Select Exons Sequencing
Familial Cutaneous Malignant Melanoma
Familial Hypercholesterolemia (FH) Panel
FAS (TNFRSF6) Gene Sequencing
Fatty Acid Oxidation Sequencing Panel
FBN1 Gene Sequencing & Del/Dup
FGF23 Gene Sequencing
FGFR-Related Disorders Panel
FGFR1 Gene Sequencing
FH Gene Sequencing
FH Gene Sequencing & Del/Dup
FH Remaining Exons Sequencing
FH Select Exons Sequencing
FISH Analysis
FISH Follow-up
FLCN Gene Sequencing
FLCN Gene Sequencing and Del/Dup
FLG (Filaggrin) Hot Spots
FMR1 CGG Repeat Analysis
FOXC1 Gene Sequencing
FOXE3 Gene Sequencing
FRMD7 Gene Sequencing
FUCA1 Gene Sequencing
FZD4 Gene Sequencing
G
GAA Gene Sequencing
GALC Gene Sequencing & Del/Dup
GALK1 Gene Sequencing
GALNS Gene Sequencing
GALT Gene Sequencing & Del/Dup
GCDH Gene Sequencing
GCH1 Gene Sequencing
GCH1 Gene Sequencing & Del/Dup
GenomeSeqDx
GFAP Gene Sequencing
GJB2 Gene Sequencing
GJB6 Gene Sequencing
GK Gene Sequencing
GLA Gene Sequencing
GLB1 Gene Sequencing
GLI3 Gene Sequencing & Del/Dup
GLI3 Remaining Exons Sequencing & Del/Dup
GLI3 Select Exons Sequencing
GNAT1 Gene Sequencing
GNE (M743T) Mutation Analysis
GNS Gene Sequencing & Del/Dup
GPC3 Gene Sequencing & Del/Dup (Females)
GPC3 Gene Sequencing (Males)
GRM6 Gene Sequencing
GUCA1A Gene Sequencing
GUCY2D Gene Sequencing
GUCY2D Select Exons Sequencing
H
HDCT Panel
HADH Gene Sequencing
HADHA Common Mutation (c.1528 G>C)
HADHA Gene Sequencing
HADHA/HADHB Gene Sequencing
HADHB Gene Sequencing
HAX1 Gene Sequencing
HCM Panel
Hearing Loss Test
Hereditary Hemorrhagic Telangiectasia Panel
Hereditary Neuropathy Panel
Hereditary Prostate Cancer Panel
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel
HESX1 Gene Sequencing
HEXA Gene Sequencing
HEXB Gene Sequencing & Del/Dup
HGSNAT Gene Sequencing
High/Moderate Risk Panel
HLCS Gene Sequencing
HME Tier 1
HME Tier 2
HMGCL Exon 2 Sequencing
HMGCL Gene Sequencing
HMGCL Remaining Exons Sequencing
Holoprosencephaly Panel & Del/Dup
HOXD13 Gene Sequencing
HPD Gene Sequencing
HPS1 & HPS3 Mutation Analysis (Puerto Rican)
HPS3 Mutation Analysis (Ashkenazi Jewish)
HRAS Gene Sequencing
HSD17B10 Gene Sequencing
Hyper-IgE Syndromes Panel
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel
I
Ichthyin(NIPAL4) Gene Sequencing
IGHMBP2 Gene Sequencing
IKBKG (NEMO) Common Deletion (Female)
IKBKG (NEMO) Gene Sequencing
IKBKG (NEMO) Gene Sequencing & Common Del/Dup
IL2RG Gene Sequencing
IL7R Gene Sequencing
IMPDH1 Gene Sequencing
Infantile Epilepsy Panel
IRAK4 Gene Sequencing
IRF6 Exon 4 Sequencing
IRF6 Gene Sequencing
ITGA6 Gene Sequencing
ITGB2 Gene Sequencing
ITGB4 Gene Sequencing
IVD Gene Sequencing
IVD Tier 1
IVD Tier 2
J
JAG1 Gene Sequencing & Del/Dup
JAG1 Tier 1
JAG1 Tier 2
JAK3 Gene Sequencing
Joubert Syndrome and Related Disorders Panel
JPS Del/Dup Analysis
JPS Tier 1
JPS Tier 2
K
KAL1 Gene Sequencing
KMT2D Gene Sequencing
KRT1 Gene Sequencing
KRT1, KRT10 Hot Spots
KRT10 Gene Sequencing
KRT13 Gene Sequencing
KRT14 Gene Sequencing
KRT16 Hot Spots
KRT17 Hot Spots
KRT2 Hot Spots
KRT4 Gene Sequencing
KRT4, KRT13 Hot Spots
KRT5 Gene Sequencing
KRT5/14 Hot Spots
KRT6A Gene Sequencing
KRT6A, KRT16 Hot Spots
KRT6B Gene Sequencing
KRT6B, KRT17 Hot Spots
KRT9 Hot Spots
L
L1CAM Gene Sequencing & Del/Dup
L1CAM Gene Sequencing (Males)
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
LAM5 Hot Spots
LAMA3 Gene Sequencing
LAMB3 Gene Sequencing
LAMC2 Gene Sequencing
LCA Tier 1
LCA Tier 2
LCA Tier 3
LCA Tier 4
LCA Tier 5
LCA Tier 6
Limb Abnormalities Panel
Limb-Girdle Muscular Dystrophy Panel
LIPA Gene Sequencing
Lissencephaly Panel
Loeys-Dietz Syndrome Panel
LQTS Panel
LRP5 Gene Sequencing
Lynch/Colorectal High Risk Panel
M
Marfan/TAAD Panel
MAT1A Gene Sequencing
MBTPS2 Gene Sequencing
MCCC1 Gene Sequencing
MCCC2 Gene Sequencing
MCOLN1 Gene Sequencing
MECP2 Gene Sequencing & Del/Dup
MEFV Select Exons Sequencing
MEN1 Del/Dup
MEN1 Gene Sequencing
MEN1 Gene Sequencing and Del/Dup
Metabolic Myopathy
Methylglutaconic Aciduria Nuclear Gene Panel
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
Microcephaly Panel
Microcephaly Xpanded Panel
65 mtDNA Point Mutations plus Large Deletions Panel
Mito Genome Sequencing & Deletion Testing
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
MitoXpanded Panel
MLYCD Gene Sequencing
MMAA Gene Sequencing
MMAB Gene Sequencing
MMACHC Gene Sequencing
MODY Sequencing Panel
MPL Gene Sequencing
MSH2 Exons 1-7 Inversion Analysis
MSUD Sequencing panel
mtDNA Del/Dup Analysis
MUT Exon 2 Sequencing
MUT Gene Sequencing
MUT Remaining Exons Sequencing
MVK Remaining Exons
MVK Select Exons
MYCN (Del/Dup)
MYCN Gene Sequencing
MYOC Gene Sequencing
Myofibrillar Myopathy Panel
N
NAGLU Gene Sequencing
NAGS Gene Sequencing
NCF1 (Exon 2) Gene Sequencing
NCF2 Gene Sequencing
NDP Gene Sequencing
NDP Gene Sequencing & Del/Dup (Females)
NEB Exon 55 Deletion
NEU1 Gene Sequencing
Neuromuscular Disorders Panel
NF1 Panel
NF1 Sequencing & Del/Dup
NF2 Panel
NIPBL Remaining Exons Sequencing
NIPBL Select Exons Sequencing
NLRP3 Exon 3 Sequencing
Noonan and RASopathies Panel
NPC1 Gene Sequencing
NPC1/NPC2 Gene Sequencing
NPC2 Gene Sequencing
NR0B1 (DAX1) Gene Sequencing
NR2E3 Gene Sequencing
NR5A1 Gene Sequencing
NSD1 Gene Sequencing & Del/Dup
NTRK1 Gene Sequencing
NYX Gene Sequencing
O
OncoGeneDx Custom Panel
OCRL Gene Sequencing
OFD1 Remaining Exons Sequencing
OFD1 Select Exons Sequencing
One mtDNA Mutation with Estimated Heteroplasmy Level
One to Three mtDNA Mutations with Heteroplasmy Level
OPTN Gene Sequencing
Osteogenesis Imperfecta Panel
OTC Gene Sequencing & Del/Dup (Females)
OTC Gene Sequencing (Males)
OTX2 Gene Sequencing
P
Prenatal Known Familial Mutation (includes MCC)
PABPN1 Repeat Analysis
PAH Gene Sequencing
Pancreatic Cancer Panel
PAX2 Gene Sequencing
PAX2 Tier 1
PAX2 Tier 2
PAX6 Gene Sequencing & Del/Dup Panel
PC Gene Sequencing
PCCA Gene Sequencing
PCCB Gene Sequencing
PDCD10 Gene Sequencing
PDE6B Gene Sequencing
PDHA1 Gene Sequencing
PDHB Gene Sequencing
Pediatric Tumor Panel
PEPD Gene Sequencing
Periodic Fever Syndromes Panel (7 genes)
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel
PHEX Gene Sequencing & Del/Dup (Females)
PHEX Gene Sequencing (Males)
PITX2 Gene Sequencing
PLEC1 Remaining Exons Sequencing
PLEC1 Select Exons Sequencing
PMP22 Del/Dup
PMP22 Gene Sequencing
POLG Gene Sequencing
Pontocerebellar Hypoplasia Panel
POR Gene Sequencing
PORCN Gene Sequencing & Del/Dup
Prader-Willi Syndrome Methylation Analysis
Premature Ovarian Failure Sequencing Panel
Prenatal 46, XY DSD Panel
Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup
Prenatal AR Gene Sequencing
Prenatal CHD7 Gene Sequencing
Prenatal DHCR7 Gene Sequencing
Prenatal FISH DiGeorge Syndrome
Prenatal Holoprosencephaly Panel & Del/Dup
Prenatal Joubert Syndrome and Related Disorders Panel
Prenatal L1CAM Gene Sequencing & Del/Dup (Females)
Prenatal L1CAM Gene Sequencing (Males)
Prenatal Limb Abnormalities Panel
Prenatal Lissencephaly Panel
Prenatal NIPBL Gene Sequencing and Del/Dup
Prenatal Noonan Spectrum Disorders Panel
Prenatal NR0B1 Gene Sequencing
Prenatal NR5A1 Gene Sequencing
Prenatal Pontocerebellar Panel
Prenatal POR Gene Sequencing
Prenatal Rapid Aneuploidy FISH
Prenatal SALL1 Gene Sequencing
Prenatal SALL4 Gene Sequencing
Prenatal Skeletal Dysplasia Panel
Prenatal SOX9 Gene Sequencing and Del/Dup
Prenatal SRD5A2 Gene Sequencing
Prenatal SRY Gene Sequencing
Prenatal Targeted Array
Prenatal TBX5 Gene Sequencing
Prenatal TP73L (TP63) Gene Sequencing
Prenatal Tuberous Sclerosis Panel
Prenatal Whole Genome Chromosomal Microarray
PRKAR1A Gene Sequencing
PRKAR1A Gene Sequencing & Del/Dup
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
Progressive Myoclonic Epilepsy Panel
PRPF3 Gene Sequencing
PRPF8 Select Exons Sequencing
PRRT2 Gene Sequencing
PSAP Gene Sequencing
PSTPIP1 Remaining Exons Sequencing
PSTPIP1 Select Exons Sequencing
PTCH1 Gene Sequencing & Del/Dup
PTEN Gene Sequencing and Del/Dup
PTEN Promoter Sequencing
PTEN Promoter Sequencing and Del/Dup
PTPN11 Gene Sequencing
PTS Gene Sequencing
Pulmonary Arterial Hypertension Panel
PUS1 Gene Sequencing
PYGM Gene Sequencing
Q
QDPR Gene Sequencing
R
RAG1/RAG2 Gene Sequencing
RAI1 Gene Sequencing & Del/Dup
RAX Gene Sequencing
RDH5 Gene Sequencing
RDS (PRPH2) Gene Sequencing
Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
Reflex Del/Dup Testing after Hyperammonemia Panel
Reflex Del/Dup Testing After Metabolic Myopathy
Reflex Del/Dup Testing After MMA and Related Disorders Panel
Renal Cancer Panel
Rest of Comprehensive Cancer Panel
Rest of Marfan/TAAD Sequencing & Del/Dup Panel
Rest of Neuromuscular Disorders Panel
Rest of the Brain Malformations Panel
Rest of the Comprehensive Epilepsy Panel
Rest of the Hereditary Neuropathy Panel
Rest of the Periodic fever panel
RET Gene Sequencing
RET Remaining Exons Sequencing (HSCR)
RET Remaining Exons Sequencing (MEN2A & MEN2B)
RET Remaining Exons Sequencing (MEN2A)
RET Remaining Exons Sequencing (MEN2B)
RET Select Exons Sequencing (HSCR)
RET Select Exons Sequencing (MEN2A)
RET Select Exons Sequencing (MEN2B)
Rett/Angelman Syndrome Panel
RHO Gene Sequencing
RIT1 Gene Sequencing
RLBP1 (BRD) Hot Spots
RLBP1 (NFRCD) Hot Spots
RLBP1 Gene Sequencing
RMRP Gene Sequencing
RP1 Hot Spots
RP2 Gene Sequencing
RPE65 Gene Sequencing
RPL11 Gene Sequencing
RPL5 Gene Sequencing
RPS19 Gene Sequencing
RSK2 (RPS6KA3) Gene Sequencing
RSK2 (RPS6KA3) Gene Sequencing & Del/Dup
RSK2 (RPS6KA3) Remaining Exons Sequencing
RSK2 (RPS6KA3) Select Exons Sequencing
S
SAG c.926delA Mutation
SAG Remaining Exon Sequencing
SALL1 Gene Sequencing
SALL4 Gene Sequencing & Del/Dup
Sanfilippo/MPSIII Sequencing Panel
SBDS Gene Sequencing
SCA Arrhythmia Panel
SCN9A Gene Sequencing
SDHA Gene Sequencing
SDHAF2 (G78R) Mutation Analysis
SDHB Gene Sequencing
SDHC Gene Sequencing
SDHD Gene Sequencing
SERPING1 (C1INH) Gene Sequencing & Del/Dup
SGSH Gene Sequencing
SH3BP2 Gene Sequencing
SHOC2 Gene Sequencing
Short-Rib Thoracic Dysplasia (SRTD) Panel
SIX1 Gene Sequencing
SLC17A5 Gene Sequencing & Del/Dup
SLC22A5 Gene Sequencing
SLC25A13 Gene Sequencing
SLC25A20 Gene Sequencing
SLC26A4 Gene Sequencing
SLC27A4 Gene Sequencing
SLC9A6 Gene Sequencing
SMC1A Gene Sequencing
SMPD1 Gene Sequencing
SMPD1 Hot Spots (Ashkenazi Jewish mutation)
SOX2 Gene Sequencing
SOX9 Gene Sequencing
SPINK5 Gene Sequencing
SPRED1 Gene Sequencing
SQTS Panel
SRD5A2 Gene Sequencing
SRY Gene Sequencing
SRY Present/Absent Testing
Stargardt Del/Dup Panel
Stargardt Sequencing Panel
STAT Epilepsy Panel
STAT3 Gene Sequencing
STAT3 Remaining Exons Sequencing
STAT3 Select Exons Sequencing
STK11 Gene Sequencing & Del/Dup
STRA6 Gene Sequencing
SUMF1 Gene Sequencing
Syndromic Congenital Muscular Dystrophy Panel(SCMD)
Syndromic Macrocephaly/Overgrowth Panel
T
Targeted Variant Testing
CUSTOMIZE
Two Known Mutations
TAT Gene Sequencing
TBX1 Gene Sequencing
TBX5 Gene Sequencing
TCOF1 Gene Sequencing
TERC Gene Sequencing
TERT Gene Sequencing
TGFBR1 Gene Sequencing
TGM1 Gene Sequencing
TH Gene Sequencing
TINF2 Exon 6 Sequencing
TMEM127 Gene Sequencing
TNFRSF1A Select Exons Sequencing
TP53 Gene Sequencing
TP53 Gene Sequencing & Del/Dup
TP63 Remaining Exons Sequencing
TP63 Select Exons Sequencing
TPP1 (CLN2) Gene Sequencing
TRPM1 Gene Sequencing
TSPAN12 Gene Sequencing
TTR Gene Sequencing
Tuberous Sclerosis Panel
Two mtDNA Mutations with Estimated Heteroplasmy Level
U
UBE3A Gene Sequencing
UBE3A Gene Sequencing & Del/Dup
Uncomplicated Hereditary Spastic Paraplegia Panel
UNG Gene Sequencing
Usher Syndrome Del/Dup Panel
Usher Syndrome Panel
V
VHL Gene Sequencing
VHL Gene Sequencing & Del/Dup
VPS13B (COH1) Gene Sequencing
VPS13B (COH1) Targeted (Finnish mutation) Gene Sequencing
VSX2 (CHX10) Gene Sequencing
W
WAS Gene Sequencing
Whole Genome Array, Products of Conception (POC)
WNT10A Gene Sequencing
X
XomeDxSlice (Phenotype-driven Specific Gene List Using WES Capture)
XLRS1 (RS1) Gene Sequencing
XomeDx - Whole Exome Sequencing (Proband)
XomeDx - Whole Exome Sequencing (Trio)
XomeDxInsights
XomeDxPlus (Proband)
XomeDxPlus (Trio)
XomeDxPrenatal Comprehensive
XomeDxPrenatal Targeted
XomeDxXpress (WES with a Verbal Result in 7 Days)
Z
ZRS Sequence Analysis (Intron 5 of LMBR1 Gene)
Zygosity Testing
