| Cabezas X-Linked Mental Retardation Syndrome via the CUL4B Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| CADASIL1 via the NOTCH3 Gene |
Sanger Sequencing |
$1840 |
Sequencing with CNV
PGxome |
$890 |
|
| CADASIL2 and CARASIL via the HTRA1 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Campomelic Dysplasia and Pierre Robin Sequence via the SOX9 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Camurati-Engelmann Disease (CED) via the TGFB1 Gene |
Sanger Sequencing |
$690 |
Sequencing with CNV
PGxome |
$890 |
|
| Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| CANDLE Syndrome via the PSMB4 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| CANDLE Syndrome via the PSMB8 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Cantu Syndrome via the ABCC9 Gene |
Sanger Sequencing |
$1590 |
Sequencing with CNV
PGxome |
$890 |
|
| Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene |
Sanger Sequencing |
$1750 |
Sequencing with CNV
PGxome |
$890 |
|
| Cardio-Facio-Cutaneous Syndrome via the MAP2K1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cardio-Facio-Cutaneous Syndrome via the MAP2K2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Carney Complex (CNC) via the PRKAR1A Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Carnitine-Acylcarnitine Translocase Deficiency via the SLC25A20 Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via the CASK Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cataract 10, Multiple Types (CTRCT10) via the CRYBA1 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 17, Multiple Types (CTRCT17) via the CRYBB1 Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 19 (CTRCT19) via the LIM2 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 22, Multiple Types (CTRCT22) via the CRYBB3 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 23 (CTRCT23) via the CRYBA4 Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 3, Multiple Types (CTRCT3) via the CRYBB2 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract 9, Multiple Types (CTRCT9) via the CRYAA Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract Type 11 via the PITX3 Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract Type 14 via the GJA3 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract Type 2 (CTRCT2) via the CRYGC Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Cataract Type 39 via the CRYGB Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome via the CALM1 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia via the CASQ2 Gene |
Sanger Sequencing |
$770 |
Sequencing with CNV
PGxome |
$890 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia via the RYR2 Gene |
Sanger Sequencing |
$3920 |
Sequencing with CNV
PGxome |
$890 |
|
| Catecholaminergic Polymorphic Ventricular Tachycardia via the TRDN Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Caveolinopathy via the CAV3 Gene |
Sanger Sequencing |
$440 |
Sequencing with CNV
PGxome |
$890 |
|
| Centronuclear Myopathy, X-Linked via the MTM1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Centronuclear Myopathy-2, Autosomal Recessive via the BIN1 Gene |
Sanger Sequencing |
$1160 |
Sequencing with CNV
PGxome |
$890 |
|
| Centronuclear Myopathy-3, Autosomal Dominant via the MYF6 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Centronuclear Myopathy-4, Autosomal Dominant (CNM4) via the CCDC78 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Cerebral Cavernous Malformations via the CCM2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cerebral Cavernous Malformations via the CCM2 Gene, Exons 2-10 Deletion |
|
| Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10 |
|
| Cerebral Cavernous Malformations via the PDCD10/CCM3 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cerebral Folate Deficiency via the FOLR1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cerebral Palsy via the GAD1 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via the CTC1 Gene |
Sanger Sequencing |
$1220 |
Sequencing with CNV
PGxome |
$890 |
|
| CerebroTendinous Xanthomatosis (CTX) via the CYP27A1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Char Syndrome via the TFAP2B Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth 1C via the LITAF Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Autosomal Dominant Intermediate C via the YARS1/YARS Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Autosomal Dominant Intermediate F via the GNB4 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Disease via the COX6A1 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth disease, axonal, type 20, Spinal muscular atrophy with lower extremity predominance and Mental retardation, autosomal dominant type 13 via the DYNC1H1 Gene |
Sanger Sequencing |
$3660 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 2E/1F via the NEFL Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 2R via the TRIM2 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 2U via the MARS1/MARS Gene |
Sanger Sequencing |
$1130 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4B1 via the MTMR2 Gene |
Sanger Sequencing |
$990 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4B2 via the SBF2 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4B3 via the SBF1 Gene |
Sanger Sequencing |
$1800 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4C via the SH3TC2 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4D via the NDRG1 Gene |
Sanger Sequencing |
$990 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type 4J via the FIG4 Gene |
Sanger Sequencing |
$1320 |
Sequencing with CNV
PGxome |
$890 |
|
| Charcot-Marie-Tooth Type X-linked Dominant 6 via the PDK3 Gene |
Sanger Sequencing |
$870 |
Sequencing with CNV
PGxome |
$890 |
|
| CHARGE and Kallmann Syndromes via the CHD7 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Chediak-Higashi Syndrome (CHS) via the LYST Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cherubism via the SH3BP2 Gene |
Sanger Sequencing |
$840 |
Sequencing with CNV
PGxome |
$890 |
|
| Childhood Absence Epilepsy and Epileptic Encephalopathy via the GABRB3 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSL/ARSE Gene |
Sanger Sequencing |
$790 |
Sequencing with CNV
PGxome |
$890 |
|
| Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the BPNT2/IMPAD1 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| CHOPS Syndrome via the AFF4 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Choroideremia via the CHM Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Christianson Type X-Linked Mental Retardation via the SLC9A6 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Chromosome 5q14.3 Deletion Syndrome via the MEF2C Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Chronic Granulomatous Disease via the CYBA Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Granulomatous Disease via the CYBB Gene |
Sanger Sequencing |
$870 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Granulomatous Disease via the NCF2 Gene |
Sanger Sequencing |
$940 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Granulomatous Disease via the NCF4 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Hereditary Pancreatitis via the CPA1 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Hereditary Pancreatitis via the PRSS1 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$990 |
|
| Chronic Hereditary Pancreatitis via the SPINK1 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Joint Pain and Dysfunction via the MMP13 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Chronic Pancreatitis via the Chymotrypsin C (CTRC) Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Chudley-Mccullough Syndrome (CMCS) and Deafness, Autosomal Recessive 82 (DFNB82) via the GPSM2 Gene |
Sanger Sequencing |
$1020 |
Sequencing with CNV
PGxome |
$890 |
|
| Citrullinemia, Type I via ASS1 Gene |
Sanger Sequencing |
$840 |
Sequencing with CNV
PGxome |
$890 |
|
| Cleft Lip with or without Cleft Palate via the ARHGAP29 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cleidocranial Dysplasia (CCD) via the RUNX2 Gene |
Sanger Sequencing |
$860 |
Sequencing with CNV
PGxome |
$890 |
|
| COASY Protein-Associated Neurodegeneration via the COASY Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cockayne Syndrome via the ERCC6 Gene |
Sanger Sequencing |
$1310 |
Sequencing with CNV
PGxome |
$890 |
|
| Cockayne Syndrome via the ERCC8 Gene |
Sanger Sequencing |
$840 |
Sequencing with CNV
PGxome |
$890 |
|
| Cohen Syndrome via the VPS13B (COH1) Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Colobomatous Microphthalmia and Skeletal Dysplasia Syndrome via the MAB21L2 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Colorectal Cancer Predisposition via the POLD1 Gene |
Sequencing with CNV
PG-Select |
$540 |
|
| Colorectal Cancer Predisposition via the POLE Gene |
Sequencing with CNV
PG-Select |
$540 |
|
| Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene |
Sanger Sequencing |
$990 |
Sequencing with CNV
PGxome |
$890 |
|
| Combined Factor V and Factor VIII Deficiency via the MCFD2 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Combined Malonic and Methylmalonic Aciduria (CMAMMA) via the ACSF3 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Combined Pituitary Hormone Deficiency-2 (CPHD2) via the PROP1 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Combined Pituitary Hormone Deficiency-4 (CPHD-4) via the LHX4 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Common Variable Immune Deficiency/IgA Deficiency via the TNFRSF13B Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Compton-North Congenital Myopathy via the CNTN1 Gene |
Sanger Sequencing |
$1280 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy (CORDX3) via the CACNA1F Gene |
Sanger Sequencing |
$2050 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy (CRD11) via the RAX2 (Qrx) Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy 20 via the POC1B Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy and Retinitis Pigmentosa via the C8orf37 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cone-Rod Dystrophy via the ADAM9 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the CABP4 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the CACNA2D4 Gene |
Sanger Sequencing |
$1870 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the CDHR1 Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the CNNM4 Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the DRAM2 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the KCNV2 Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the PITPNM3 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Cone-Rod Dystrophy via the UNC119 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via the TRAP1 Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Adrenal Hyperplasia (CAH) due to 11-β-Hydroxylase Deficiency (11-OHD) via the CYP11B1 Gene |
|
| Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene |
|
| Congenital Amegakaryocytic Thrombocytopenia (CAMT) and Thrombocythemia 2 via the MPL Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the DSTYK Gene |
Sanger Sequencing |
$1020 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via the FGF20 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Bile Acid Synthesis Defect Type 2 via the AKR1D1 Gene |
Sanger Sequencing |
$840 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Bile Acid Synthesis Defect-5 via the ABCD3 Gene |
Sanger Sequencing |
$1590 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Cataract, Microcornea, and Corneal Opacity (CCMCO) via the PXDN Gene |
Sanger Sequencing |
$1440 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Cataracts and Ayme-Gripp Syndrome via the MAF Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) Syndrome via the CTDP1 Gene |
Sanger Sequencing |
$1220 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Cataracts via the BFSP1 Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Cataracts via the CHMP4B Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Central Hypoventilation Syndrome (CCHS) via the BDNF Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Central Hypoventilation Syndrome (CCHS) via the BMP2 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2A Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene |
Sequencing with CNV
PG-Select |
$540 |
|
| Congenital Contractural Arachnodactyly (Beals Syndrome) via the FBN2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Disorder of Glycosylation, Type IIm via the SLC35A2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Disorder of Glycosylation, Type Iu and Secondary Dystroglycanopathy via the DPM2 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via the PMM2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Disorders of Glycosylation, Type Id (CDG Id) via the ALG3 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Ie (CDG Ie) via the DPM1 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type If (CDG If) via the MPDU1 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via the ALG12 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via the ALG8 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via the ALG2 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type IIj via the COG4 Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Dyserythropoietic Anemia Type I via the CDAN1 Gene |
Sanger Sequencing |
$1530 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Dyserythropoietic Anemia Type I via the CDIN1/C15orf41 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Dyserythropoietic Anemia Type II via the SEC23B Gene |
Sanger Sequencing |
$1310 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Erythropoietic Porphyria via the UROS Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Factor XIII deficiency via the F13A1 Gene |
Sanger Sequencing |
$970 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Factor XIII Deficiency via the F13B Gene |
Sanger Sequencing |
$970 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Fibrinogen Deficiency via the FGA Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Fibrinogen Deficiency via the FGB Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Fibrinogen Deficiency via the FGG Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via the TUBB3 Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Generalized Lipodystrophy (CGL) via the AGPAT2 Gene |
Sanger Sequencing |
$640 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Generalized Lipodystrophy (CGL) via the CAVIN1 (PTRF) Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via the SLC4A11 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Hypothyroidism (Central Hypothyroidism and Testicular Enlargement) via the IGSF1 Gene |
Sanger Sequencing |
$1130 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene |
Sanger Sequencing |
$870 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 Gene |
Sanger Sequencing |
$1500 |
Sequencing with CNV
PGxome |
$1070 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOXA2 Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the IYD/DEHAL1 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the SLC5A5/NIS Gene |
Sanger Sequencing |
$1130 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TG Gene |
Sanger Sequencing |
$2520 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the TPO Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Hormone Resistance) via the THRA Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyroid Stimulating Hormone Deficiency) via the TSHB Gene |
Sanger Sequencing |
$440 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via the TRH Gene |
Sanger Sequencing |
$540 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypothyroidism and Neonatal Diabetes Mellitus via the GLIS3 Gene |
Sanger Sequencing |
$1060 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies (CHEDDA) via the ATN1 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Insensitivity to Pain with Anhidrosis via the NTRK1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Interstitial Lung Disease with Nephrotic Syndrome and Epidermolysis Bullosa (ILNEB) via the ITGA3 Gene |
Sanger Sequencing |
$1280 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Methemoglobinemia via the CYB5R3 Gene |
Sanger Sequencing |
$750 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Muscular Dystrophy, Megaconial Type via the CHKB Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndrome 24 via the MYO9A Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndrome via the CHRNE Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Myasthenic Syndrome via the COLQ Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Myasthenic Syndrome via the GFPT1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Myasthenic Syndrome via the MUSK Gene |
Sanger Sequencing |
$930 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndrome via the SYT2 Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndrome with Episodic Apnea via the CHAT Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene |
Sanger Sequencing |
$680 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene |
Sanger Sequencing |
$770 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myasthenic Syndromes via the CHRNB1 Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myopathy (Native American Myopathy) via the STAC3 Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Myopathy via the HACD1 Gene |
Sequencing with CNV
PGxome |
|
|
| Congenital Myopathy with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies via the MYOD1 Gene |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Nephrotic Syndrome via the NPHS1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Congenital Stationary Night Blindness and Retinal Degeneration via the SLC24A1 Gene |
Sanger Sequencing |
$990 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Stationary Night Blindness via the LRIT3 Gene |
Sanger Sequencing |
$710 |
Sequencing with CNV
PGxome |
$890 |
|
| Congenital Variant Rett syndrome or FOXG1 syndrome via the FOXG1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Conradi-Hunermann syndrome via the EBP Gene |
Sanger Sequencing |
$560 |
Sequencing with CNV
PGxome |
$890 |
|
| Cornelia de Lange Syndrome and Wiedemann-Steiner Syndrome via the KMT2A Gene |
Sanger Sequencing |
$2670 |
Sequencing with CNV
PGxome |
$890 |
|
| Cornelia de Lange Syndrome via the ANKRD11 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cornelia de Lange Syndrome via the HDAC8 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Cornelia de Lange Syndrome via the NIPBL Gene |
Sanger Sequencing |
$2270 |
Sequencing with CNV
PGxome |
$890 |
|
| Cornelia de Lange Syndrome via the RAD21 Gene |
Sanger Sequencing |
$1090 |
Sequencing with CNV
PGxome |
$890 |
|
| Cornelia de Lange Syndrome via the SMC1A Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cornelia de Lange Syndrome via the SMC3 Gene |
Sanger Sequencing |
$1530 |
Sequencing with CNV
PGxome |
$890 |
|
| Cortical Dysplasia, Complex, with Other Brain Malformations 4 via the TUBG1 Gene |
|
| Cortical Dysplasia-Focal Epilepsy Syndrome via the CNTNAP2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Costello Syndrome via the HRAS Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cowden and Cowden-like Syndromes via the PIK3CA Gene |
Sanger Sequencing |
$1100 |
Sequencing with CNV
PGxome |
$890 |
|
| Cranioectodermal Dysplasia 1 (CED1) via the IFT122 Gene |
Sanger Sequencing |
$1430 |
Sequencing with CNV
PGxome |
$890 |
|
| Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene |
Sanger Sequencing |
$1360 |
Sequencing with CNV
PGxome |
$890 |
|
| Craniofrontonasal Syndrome via the EFNB1 Gene |
Sanger Sequencing |
$580 |
Sequencing with CNV
PGxome |
$890 |
|
| Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via the IL11RA Gene |
Sanger Sequencing |
$870 |
Sequencing with CNV
PGxome |
$890 |
|
| Craniosynostosis via the MSX2 Gene |
Sanger Sequencing |
$490 |
Sequencing with CNV
PGxome |
$890 |
|
| Craniosynostosis via the TCF12 Gene |
Sanger Sequencing |
$1280 |
Sequencing with CNV
PGxome |
$890 |
|
| Creatine Deficiency Syndrome via the GAMT Gene |
Sanger Sequencing |
$610 |
Sequencing with CNV
PGxome |
$890 |
|
| Creatine Deficiency Syndrome via the GATM Gene |
Sanger Sequencing |
$690 |
Sequencing with CNV
PGxome |
$890 |
|
| Creatine Deficiency Syndrome via the SLC6A8 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene |
Sanger Sequencing |
$1060 |
Sequencing with CNV
PGxome |
$890 |
|
| Currarino Syndrome via the MNX1 Gene |
Sanger Sequencing |
$650 |
Sequencing with CNV
PGxome |
$890 |
|
| Cutis Laxa via the FBLN5 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cutis Laxa via the LTBP4 Gene |
Sanger Sequencing |
$1440 |
Sequencing with CNV
PGxome |
$890 |
|
| Cutis Laxa via the PYCR1 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cutis Laxa, Type 1B (ARCL1B) via the EFEMP2 Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cystathioninuria via the CTH Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Cystic Fibrosis and CF-Related Disorders via the CFTR Gene |
Sequencing with CNV
PG-Select |
$640 |
|
| Cystinosis via the CTNS Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Cystinosis via the CTNS Gene, 57-kb Deletion |
|
| Cystinuria via the SLC3A1 Gene |
Sanger Sequencing |
$780 |
Sequencing with CNV
PGxome |
$890 |
|
| Cystinuria via the SLC7A9 Gene |
Sanger Sequencing |
$810 |
Sequencing with CNV
PGxome |
$890 |
|
| Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene |
Sanger Sequencing |
$840 |
Sequencing with CNV
PGxome |
$890 |
|
ORDER