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METHOD KEY

  • Sequencing with CNV
    PGxome
  • Sequencing with CNV
    PG-Select
  • CNV via aCGH
  • Sanger Sequencing
  • MLPA
  • Repeat Expansion
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Search Results

Test Descriptions Found: 295
Searched: all tests

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Panel(s) Available Method Price
CADASIL and CARASIL Panel
Sequencing with CNV
PGxome
$960
Cancer Panel
Sequencing with CNV
PG-Select
$690
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Sequencing with CNV
PGxome
$890
Cerebral Cavernous Malformations Panel
Sequencing with CNV
PG-Select
$640
Cerebral Small Vessel Disease Panel
Sequencing with CNV
PGxome
$1140
Charcot-Marie-Tooth (CMT) - Axonal Neuropathy Panel
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth (CMT) - Comprehensive Panel
Sequencing with CNV
PGxome
$890
Charcot-Marie-Tooth (CMT) - Demyelinating Neuropathy Panel
Sequencing with CNV
PGxome
$890
CHARGE and Kallmann Syndromes Panel
Sequencing with CNV
PG-Select
$990
Cholestasis Panel
Sequencing with CNV
PGxome
$890
Chromosomal Instability Syndromes Panel
Sequencing with CNV
PGxome
$890
Chronic Granulomatous Disease Panel
Sequencing with CNV
PGxome
$890
Chronic Pancreatitis Panel
Sequencing with CNV
PGxome
$1100
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel
Sequencing with CNV
PGxome
$930
Chronic/Cutaneous Porphyria Panel
Sequencing with CNV
PGxome
$890
Ciliopathy Panel
Sequencing with CNV
PGxome
$1090
Cleft Lip/Cleft Palate Panel
Sequencing with CNV
PGxome
$1240
Coagulation Factor Deficiency Panel
Sequencing with CNV
PGxome
$890
Coenzyme Q10 Ubiquinone Deficiency Panel
Sequencing with CNV
PGxome
$890
Coffin-Siris Syndrome Panel
Sequencing with CNV
PGxome
$1100
Colorectal Cancer Panel
Sequencing with CNV
PG-Select
$540
Combined Pituitary Hormone Deficiency (CPHD) Panel
Sequencing with CNV
PGxome
$930
Common Variable Immune Deficiency (CVID) Panel
Sequencing with CNV
PGxome
$890
Complex Hereditary Spastic Paraplegia Panel
Sequencing with CNV
PGxome
$1100
Comprehensive Brain Malformation Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Cardiac Arrhythmia Panel
Sequencing with CNV
PGxome
$1030
Comprehensive Cardiology Panel
Sequencing with CNV
PGxome
$1310
Comprehensive Cataracts Panel
Sequencing with CNV
PGxome
$1310
Comprehensive Congenital Heart Disease Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Epilepsy and Seizure Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Inherited Kidney Diseases Panel
Sequencing with CNV
PGxome
$1490
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel
Sequencing with CNV
PGxome
$1740
Comprehensive Monogenic Obesity Panel
Sequencing with CNV
PG-Select
$790
Comprehensive Neuromuscular Panel
Sequencing with CNV
PGxome
$1280
Comprehensive Neuropathy Panel
Sequencing with CNV
PGxome
$990
Comprehensive Ocular Disorders (includes RPGR ORF15) Panel
Sequencing with CNV
PGxome
$1990
Comprehensive Vitreoretinopathy Panel
Sequencing with CNV
PGxome
$890
Cone-Rod Dystrophy Panel
Sequencing with CNV
PGxome
$890
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel
Sequencing with CNV
PGxome
$990
Congenital Adrenal Hyperplasia (CAH) Panel
Sequencing with CNV
PGxome
$1940
Congenital Cataracts Panel
Sequencing with CNV
PGxome
$990
Congenital Central Hypoventilation Syndrome (CCHS) Panel
Sequencing with CNV
PGxome
$990
Congenital Diaphragmatic Hernia Panel
Sequencing with CNV
PGxome
$990
Congenital Diarrhea and Enteropathies Panel
Sequencing with CNV
PGxome
$1420
Congenital Disorders of Glycosylation (CDG) Panel
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic)
Sequencing with CNV
PGxome
$890
Congenital Disorders of Glycosylation (CDG) Panel (Types Id, Ie, If, Ig, Ih, Ii)
Sequencing with CNV
PGxome
$890
Congenital Dyserythropoietic Anemia Panel
Sequencing with CNV
PGxome
$890
Congenital Fibrinogen Deficiency Panel
Sequencing with CNV
PGxome
$890
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Panel
Sequencing with CNV
PGxome
$890
Congenital Generalized Lipodystrophy (CGL) Panel
Sequencing with CNV
PGxome
$890
Congenital Hyperinsulinism Panel
Sequencing with CNV
PGxome
$930
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel
Sequencing with CNV
PGxome
$890
Congenital Ichthyosis and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Congenital Limb Malformation Panel
Sequencing with CNV
PGxome
$1030
Congenital Muscular Dystrophy (CMD) Panel
Sequencing with CNV
PGxome
$890
Congenital Myasthenic Syndrome Panel
Sequencing with CNV
PGxome
$890
Congenital Myopathy Panel
Sequencing with CNV
PGxome
$890
Congenital Stationary Night Blindness Panel
Sequencing with CNV
PGxome
$930
Connective Tissue Disorders Panel
Sequencing with CNV
PGxome
$1310
Corneal Dystrophies Panel
Sequencing with CNV
PGxome
$890
Cornelia de Lange Syndrome (CdLS) and Cornelia de Lange Syndrome-Related Disorders Panel
Sequencing with CNV
PGxome
$930
Cornelia de Lange Syndrome (CdLS) Panel
Sequencing with CNV
PGxome
$960
Craniosynostosis and Related Disorders Panel
Sequencing with CNV
PGxome
$890
Cystinuria Panel
Sequencing with CNV
PGxome
$890
Single Gene Test(s) Available Method Price
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
Other
$250
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene
Sequencing with CNV
PG-Select
$640
Cerebral Cavernous Malformations via the KRIT1/CCM1 Gene, Exon 10
Sanger Sequencing
$250
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 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 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 ARSE Gene
Sanger Sequencing
$790
Sequencing with CNV
PGxome
$890
Chondrodysplasia with Joint Dislocations/Catel–Manzke Syndrome via the 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
Sanger Sequencing
$870
Congenital Adrenal Hyperplasia (CAH) via the CYP21A2 Gene
Sanger Sequencing
$970
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 C15orf41 Gene
Sanger Sequencing
$810
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 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 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
Sanger Sequencing
$750
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
Other
$250
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
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