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Test Descriptions Found:

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Test Available Sequencing Del/Dup Other
3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection$890.00
3-Methylcrotonyl-CoA Carboxylase Deficiency via MCCC1 Gene Sequencing with CNV Detection$890.00
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection$890.00
ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection$890.00
AMPD2-Related Disorders via AMPD2 Gene Sequencing with CNV Detection$890.00
Aceruloplasminemia via CP Gene Sequencing with CNV Detection$890.00
Achondrogenesis Type 1A via TRIP11 Gene Sequencing with CNV Detection$890.00
Achromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection$890.00
Acrofacial Dysostosis 1, Nagar Type via SF3B4 Gene Sequencing with CNV Detection$890.00
Acute Intermittent Porphyria via HMBS Gene Sequencing with CNV Detection$890.00
Acute Myeloid Leukemia (AML) via CEBPA Gene Sequencing with CNV Detection$890.00
Agammaglobulinemia Sequencing Panel with CNV Detection$890.00
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection$890.00
Agnathia-Otocephaly Complex via PRRX1 Gene Sequencing with CNV Detection$890.00
Alexander Disease via GFAP Gene Sequencing with CNV Detection$890.00
Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via SLC16A2 Gene Sequencing with CNV Detection$890.00
Alstrom Syndrome via ALMS1 Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta Sequencing Panel with CNV Detection$890.00
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection$890.00
Amelogenesis Imperfecta via WDR72 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via ANXA11 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via CHMP2B Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis via UBQLN2 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via PFN1 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via SOD1 Gene Sequencing with CNV Detection$890.00
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via TARDBP Gene Sequencing with CNV Detection$580.00
Angelman Syndrome via UBE3A Gene Sequencing with CNV Detection$890.00
Aniridia via PAX6 Gene Sequencing with CNV Detection$890.00
Anterior Segment Dysgenesis via FOXE3 Gene Sequencing with CNV Detection$890.00
Anti-Plasmin Deficiency via SERPINF2 Gene Sequencing with CNV Detection$890.00
Antithrombin Deficiency via SERPINC1 Gene Sequencing with CNV Detection$890.00
Aromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection$890.00
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via TGFB3 Gene Sequencing with CNV Detection$890.00
Atrial Fibrillation Syndrome via MYL4 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders Sequencing Panel with CNV Detection$1240.00
Autism Spectrum Disorders and CTNND2-Related Disorders via CTNND2 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders and Intellectual Disability (ASD-ID) Comprehensive Sequencing Panel with CNV Detection$2490.00
Autism Spectrum Disorders via CACNA2D3 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via CHD8 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via DSCAM Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via FOXP1 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via KATNAL2 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via KMT5B (SUV420H1) Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders via TRIP12 Gene Sequencing with CNV Detection$890.00
Autism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection$890.00
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection$890.00
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection$890.00
Autosomal Domianant DOPA-Responsive Dystonia via GCH1 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via SLC25A4 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via TWNK/C10orf2 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa 17 (RP17) via CA4 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa 31 (RP31) via TOPORS Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection$930.00
Autosomal Dominant Retinitis Pigmentosa via PRPF6 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant Retinitis Pigmentosa via SNRNP200 Gene Sequencing with CNV Detection$890.00
Autosomal Dominant, Non-Syndromic Holoprosencephaly via GAS1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via ALOXE3 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via CYP4F22 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Congenital Ichthyosis (ARCI) via PNPLA1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Cutis Laxa Type 3A (ARCL3A) via ALDH18A1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Cutis Laxa Type IIA (ARCL2A) and Wrinkly Skin Syndrome (WSS) via ATP6V0A2 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGT Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Renal Tubular Dysgenesis (RTD) via AGTR1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection$990.00
Autosomal Recessive Retinitis Pigmentosa via FLVCR1 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Retinitis Pigmentosa via SLC7A14 Gene Sequencing with CNV Detection$890.00
Autosomal Recessive Transient Infantile Liver Failure (LFIT) via TRMU Gene Sequencing with CNV Detection$890.00
BRAF-Related Disorders via BRAF Gene Sequencing with CNV Detection$890.00
Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection$890.00
Baraitser-Winter Cerebrofrontofacial Syndrome Type 1 (Syndromic Intellectual Disability) via ACTB Gene Sequencing with CNV Detection$890.00
Bardet-Biedl Syndrome via TRIM32/BBS11 Gene Sequencing with CNV Detection$890.00
Barth Syndrome via TAZ Gene Sequencing with CNV Detection$890.00
Beckwith-Wiedemann Syndrome via CDKN1C Gene Sequencing with CNV Detection$890.00
Benign Flecked Retina Disorder via PLA2G5 Gene Sequencing with CNV Detection$890.00
Bernard-Soulier Syndrome via GP1BA Gene Sequencing with CNV Detection$890.00
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via BEST1 Gene Sequencing with CNV Detection$890.00
Beta-propeller Protein-Associated Neurodegeneration (BPAN) via WDR45 Gene Sequencing with CNV Detection$890.00
Bietti Crystalline Corneoretinal Dystrophy via CYP4V2 Gene Sequencing with CNV Detection$890.00
Birt-Hogg-Dube Syndrome via FLCN Gene Sequencing with CNV Detection$890.00
Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection$890.00
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome via NR2F1 Gene Sequencing with CNV Detection$890.00
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency via BCKDK Gene Sequencing with CNV Detection$890.00
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection$890.00
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection$890.00
Brittle Cornea Syndrome Sequencing Panel with CNV Detection$890.00
Brugada Syndrome via RANGRF Gene Sequencing with CNV Detection$890.00
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection$890.00
CENPJ-Related Disorders via CENPJ Gene Sequencing with CNV Detection$890.00
COASY Protein-Associated Neurodegeneration via COASY Gene Sequencing with CNV Detection$890.00
Camurati-Engelmann Disease (CED) via TGFB1 Gene Sequencing with CNV Detection$890.00
Cardio-Facio-Cutaneous Syndrome via MAP2K1 Gene Sequencing with CNV Detection$890.00
Cardio-Facio-Cutaneous Syndrome via MAP2K2 Gene Sequencing with CNV Detection$890.00
Carney Complex (CNC) via PRKAR1A Gene Sequencing with CNV Detection$890.00
Cataract 17, Multiple Types (CTRCT17) via CRYBB1 Gene Sequencing with CNV Detection$890.00
Cataract 19 (CTRCT19) via LIM2 Gene Sequencing with CNV Detection$890.00
Cataract 23 (CTRCT23) via CRYBA4 Gene Sequencing with CNV Detection$890.00
Cataract 3, Multiple Types (CTRCT3) via CRYBB2 Gene Sequencing with CNV Detection$890.00
Cataract Type 11 via PITX3 Gene Sequencing with CNV Detection$890.00
Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection$890.00
Cerebral Cavernous Malformations via KRIT1/CCM1 Gene Sequencing with CNV Detection$890.00
Cerebral Cavernous Malformations via PDCD10/CCM3 Gene Sequencing with CNV Detection$890.00
Cerebroretinal Microangiopathy with Calcifications and Cysts (Coats plus syndrome) via CTC1 Gene Sequencing with CNV Detection$890.00
Charcot-Marie-Tooth Type 2E/1F via NEFL Gene Sequencing with CNV Detection$890.00
Charcot-Marie-Tooth Type 4D via NDRG1 Gene Sequencing with CNV Detection$890.00
Cherubism via SH3BP2 Gene Sequencing with CNV Detection$890.00
Chronic Granulomatous Disease via NCF2 Gene Sequencing with CNV Detection$890.00
Chronic Hereditary Pancreatitis via CPA1 Gene Sequencing with CNV Detection$890.00
Chronic Hereditary Pancreatitis via SPINK1 Gene Sequencing with CNV Detection$890.00
Chronic Joint Pain and Dysfunction via MMP13 Gene Sequencing with CNV Detection$890.00
Chronic Pancreatitis via Chymotrypsin C (CTRC) Gene Sequencing with CNV Detection$890.00
Cleidocranial Dysplasia (CCD) via RUNX2 Gene Sequencing with CNV Detection$890.00
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection$890.00
Combined Malonic and Methylmalonic Aciduria (CMAMMA) via ACSF3 Gene Sequencing with CNV Detection$890.00
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection$890.00
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection$990.00
Comprehensive Cardiology Sequencing Panel with CNV Detection$1310.00
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection$1240.00
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$1980.00
Cone-Rod Dystrophy (CRD11) via RAX2 (Qrx) Gene Sequencing with CNV Detection$890.00
Cone-Rod Dystrophy and Retinitis Pigmentosa via C8orf37 Gene Sequencing with CNV Detection$890.00
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection$890.00
Congenital Abnormalities of Kidney and Urinary Tract (CAKUT) and VACTERL Association via TRAP1 Gene Sequencing with CNV Detection$890.00
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection$1000.00
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) via FGF20 Gene Sequencing with CNV Detection$890.00
Congenital Central Hypoventilation Syndrome (CCHS) via ASCL1 Gene Sequencing with CNV Detection$890.00
Congenital Central Hypoventilation Syndrome (CCHS) via PHOX2A Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type IIj via COG4 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Ig (CDG Ig) via ALG12 Gene Sequencing with CNV Detection$890.00
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection$890.00
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection$890.00
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection$890.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Type 3A via TUBB3 Gene Sequencing with CNV Detection$890.00
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection$890.00
Congenital Hypothyroidism (Thyroid Dysgenesis) via NKX2-1/TTF1 Gene Sequencing with CNV Detection$890.00
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection$890.00
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection$1070.00
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection$890.00
Congenital Limb Malformation Sequencing Panel with CNV Detection$990.00
Congenital Myasthenic Syndrome via SYT2 Gene Sequencing with CNV Detection$890.00
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via CHRNA1 Gene Sequencing with CNV Detection$890.00
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection$890.00
Congenital Stationary Night Blindness via LRIT3 Gene Sequencing with CNV Detection$890.00
Conradi-Hunermann syndrome via EBP Gene Sequencing with CNV Detection$890.00
Corneal Dystrophies Sequencing Panel with CNV Detection$890.00
Craniofrontonasal Syndrome via EFNB1 Gene Sequencing with CNV Detection$890.00
Craniosynostosis and Dental Anomalies, Autosomal Recessive Crouzon-like Craniosynostosis via IL11RA Gene Sequencing with CNV Detection$890.00
Creatine Deficiency Syndrome via GATM Gene Sequencing with CNV Detection$890.00
Currarino Syndrome via MNX1 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via FBLN5 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via LTBP4 Gene Sequencing with CNV Detection$890.00
Cutis Laxa via PYCR1 Gene Sequencing with CNV Detection$890.00
Cutis Laxa, Type 1B (ARCL1B) via EFEMP2 Gene Sequencing with CNV Detection$890.00
Cystathioninuria via CTH Gene Sequencing with CNV Detection$890.00
D-2-Hydroxyglutaric Aciduria Type I via D2HGDH Gene Sequencing with CNV Detection$890.00
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection$890.00
DYT1 Early-Onset Isolated Dystonia via TOR1A Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 15 (DFNA15) via POU4F3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 20 (DFNA20) via ACTG1 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 25 (DFNA25) via SLC17A8 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 40 (DFNA40) via CRYM Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 4B (DFNA4B) via CEACAM16 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Dominant 69 (DFNA69), and Familial Progressive Hyperpigmentation with or without Hypopigmentation via KITLG Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 15 (DFNB15) via GIPC3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 24 (DFNB24) via RDX Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 25 (DFNB25) via GRXCR1 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 49 (DFNB49) via MARVELD2 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 6 (DFNB6) via TMIE Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 74 (DFNB74) via MSRB3 Gene Sequencing with CNV Detection$890.00
Deafness, Autosomal Recessive 8 (DFNB8) and Deafness, Autosomal Recessive 10 (DFNB10) via TMPRSS3 Gene Sequencing with CNV Detection$890.00
Deafness, X-Linked 2 (DFNX2) via POU3F4 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia Sequencing Panel with CNV Detection$1070.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPL35A Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS10 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS24 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS26 Gene Sequencing with CNV Detection$890.00
Diamond-Blackfan Anemia and Bone Marrow Failure via RPS7 Gene Sequencing with CNV Detection$890.00
Diaphanospondylodysostosis via BMPER Gene Sequencing with CNV Detection$890.00
Dias-Logan Syndrome via BCL11A Gene Sequencing with CNV Detection$890.00
Dihydropteridine Reductase (DHPR) Deficiency via QDPR Gene Sequencing with CNV Detection$890.00
Dihydropyrimidinase deficiency via DPYS Gene Sequencing with CNV Detection$890.00
Dilated Cardiomyopathy Sequencing Panel with CNV Detection$890.00
Dilated Cardiomyopathy via ANKRD1 Gene Sequencing with CNV Detection$890.00
Dilated Cardiomyopathy via LAMA4 Gene Sequencing with CNV Detection$930.00
Dilated Cardiomyopathy via NEXN Gene Sequencing with CNV Detection$890.00
Dilated Cardiomyopathy via RBM20 Gene Sequencing with CNV Detection$890.00
Dimethylglycine Dehydrogenase Deficiency via DMGDH Gene Sequencing with CNV Detection$890.00
Disorders of Sex Development Sequencing Panel with CNV Detection$990.00
Disorders of Sex Development and Infertility Sequencing Panel with CNV Detection$990.00
Distal Myopathy 2 via MATR3 Gene Sequencing with CNV Detection$890.00
Duane Retraction Syndrome Type 2 via CHN1 Gene Sequencing with CNV Detection$890.00
Duane-Radial Ray Syndrome and Acro-Renal-Ocular Syndrome via SALL4 Gene Sequencing with CNV Detection$890.00
Dubin-Johnson Syndrome via ABCC2 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection$890.00
Dyskeratosis Congenita (DC) and Revesz Syndrome via TINF2 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via NOP10 Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via TERC Gene Sequencing with CNV Detection$890.00
Dyskeratosis Congenita (DC) via WRAP53 Gene Sequencing with CNV Detection$890.00
Dystonia Sequencing Panel with CNV Detection$1380.00
Dystonia via ANO3 Gene Sequencing with CNV Detection$890.00
Dystonia via GNAL Gene Sequencing with CNV Detection$890.00
Dystonia via THAP1 Gene Sequencing with CNV Detection$890.00
Dystroglycanopathies via POMK Gene Sequencing with CNV Detection$890.00
Dystroglycanopathy via DAG1 Gene Sequencing with CNV Detection$890.00
Dystroglycanopathy via GMPPB Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy 24 via HCN1 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy or Kohlschütter-Tönz Syndrome via SLC13A5 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy via KCNA2 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy via SLC25A22 Gene Sequencing with CNV Detection$890.00
Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via ST3GAL3 Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia via NECTIN1 Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia via WNT10A Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia/Skin Fragility Syndrome via PKP1 Gene Sequencing with CNV Detection$890.00
Ectodermal Dysplasia/Tooth Agenesis via MSX1 Gene Sequencing with CNV Detection$890.00
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via FKBP14 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa Simplex (EBS) via KRT5 Gene Sequencing with CNV Detection$890.00
Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection$890.00
Epidermolysis Bullosa with Pyloric Atresia via ITGA6 Gene Sequencing with CNV Detection$890.00
Epidermolytic Hyperkeratosis via KRT1 Gene Sequencing with CNV Detection$890.00
Epilepsy, X-linked, with Variable Learning Disabilities and Behavior Disorders via SYN1 Gene Sequencing with CNV Detection$890.00
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via ALG13 Gene Sequencing with CNV Detection$890.00
Epilepsy: Early Infantile Epileptic Encephalopathy 27 via GRIN2B Gene Sequencing with CNV Detection$890.00
Epilepsy: SCN3A-Related Epilepsy via SCN3A Gene Sequencing with CNV Detection$890.00
Epimerase Deficiency Galactosemia via GALE Gene Sequencing with CNV Detection$890.00
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection$890.00
FBXL4-Related Mitochondrial DNA Depletion Syndrome via FBXL4 Gene Sequencing with CNV Detection$890.00
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection$890.00
FTO-Deficiency Syndrome via FTO Gene Sequencing with CNV Detection$890.00
Factor VII Deficiency via F7 Gene Sequencing with CNV Detection$890.00
Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection$890.00
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection$890.00
Familial Amyloidosis via TTR Gene Sequencing with CNV Detection$890.00
Familial Exudative Vitreoretinopathy 1 (FEVR1) via FZD4 Gene Sequencing with CNV Detection$890.00
Familial Exudative Vitreoretinopathy 5 (FEVR5) via TSPAN12 Gene Sequencing with CNV Detection$890.00
Familial Gastrointestinal Stromal Tumors (GISTs) via PDGFRA Gene Sequencing with CNV Detection$890.00
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection$890.00
Familial Hemophagocytic Lymphohistiocytosis-Type 2 (FHL2) via PRF1 Gene Sequencing with CNV Detection$890.00
Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection$890.00
Familial Platelet Function Disorder via GP6 Gene Sequencing with CNV Detection$890.00
Farber Lipogranulomatosis via ASAH1 Gene Sequencing with CNV Detection$890.00
Female Infertility Sequencing Panel with CNV Detection$990.00
Fetal Concerns Sequencing Panel with CNV Detection$890.00
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection$890.00
Flecked Retina Disorder Sequencing Panel with CNV Detection$890.00
Focal Dermal Hypoplasia (FDH) via PORCN Gene Sequencing with CNV Detection$890.00
Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection$890.00
GATA2-Related Disorders and Predisposition to Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia via GATA2 Gene Sequencing with CNV Detection$890.00
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection$890.00
GLUT1 Deficiency Syndrome via SLC2A1 Gene Sequencing with CNV Detection$890.00
GNAS-Related Disorders via GNAS Gene Sequencing with CNV Detection$890.00
GYG1-Related Disorders via GYG1 Gene Sequencing with CNV Detection$890.00
Galactosialidosis via CTSA Gene Sequencing with CNV Detection$890.00
Gelatinous Drop-Like Corneal Dystrophy (GDLD) via TACSTD2 Gene Sequencing with CNV Detection$890.00
Generalized Arterial Calcification of Infancy via ENPP1 Gene Sequencing with CNV Detection$890.00
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection$890.00
Glucose Phosphate Isomerase Deficiency via GPI Gene Sequencing with CNV Detection$890.00
Glutathione Synthetase Deficiency via GSS Gene Sequencing with CNV Detection$890.00
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection$890.00
Griscelli Syndrome-Type 2 (GS2) via RAB27A Gene Sequencing with CNV Detection$890.00
Gyrate Atrophy of Choroid and Retina via OAT Gene Sequencing with CNV Detection$890.00
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection$890.00
Helsmoortel-Van der Aa Syndrome via ADNP Gene Sequencing with CNV Detection$890.00
Hemiplegic Migraine and PRRT2-Related Disorders via PRRT2 Gene Sequencing with CNV Detection$890.00
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection$890.00
Hereditary Lymphedema via GJC2 Gene Sequencing with CNV Detection$890.00
Hereditary Motor and Sensory Neuropathy IIB (HMSN2B) via RAB7A Gene Sequencing with CNV Detection$890.00
Hereditary Multiple Osteochondromas (HMO) via EXT1 Gene Sequencing with CNV Detection$890.00
Hereditary Neuroblastoma via KIF1B Gene Sequencing with CNV Detection$890.00
Hereditary Paraganglioma-Pheochromocytoma Syndrome via SDHD Gene Sequencing with CNV Detection$890.00
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection$990.00
Hereditary Spastic Paraplegia via ATP2B4 (PMCA4) Gene Sequencing with CNV Detection$890.00
Heterotaxy and Conotruncal Heart Defects via GDF1 Gene Sequencing with CNV Detection$890.00
Heterotaxy, Visceral 5 (HTX5) via NODAL Gene Sequencing with CNV Detection$890.00
Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection$890.00
Holoprosencephaly-2 (Autosomal Dominant, Nonsyndromic) via SIX3 Gene Sequencing with CNV Detection$890.00
Holt-Oram Syndrome (HOS) via TBX5 Gene Sequencing with CNV Detection$890.00
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection$890.00
Hyper IgM Syndrome Sequencing Panel with CNV Detection$890.00
Hyper IgM Syndrome via AICDA Gene Sequencing with CNV Detection$890.00
Hypercalcemic and Hypocalcemic Disorders via CASR Gene Sequencing with CNV Detection$890.00
Hyperglycemia and Hypoglycemia via GCK Gene Sequencing with CNV Detection$890.00
Hyperphosphatasia with Intellectual Disability via PIGO Gene Sequencing with CNV Detection$890.00
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via CSRP3 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via TPM1 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy and Related Disorders via TNNT2 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy via MYBPC3 Gene Sequencing with CNV Detection$890.00
Hypertrophic Cardiomyopathy via MYL2 Gene Sequencing with CNV Detection$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome Sequencing Panel with CNV Detection$930.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via FEZF1 Gene Sequencing with CNV Detection$890.00
Hypogonadotropic Hypogonadism/Kallmann Syndrome via PROK2 Gene Sequencing with CNV Detection$890.00
Hypomagnesemia Sequencing Panel with CNV Detection$890.00
Hypoparathyroidism Sequencing Panel with CNV Detection$890.00
Hypoparathyroidism, Sensorineural Deafness and Renal Disease (HDR) via GATA3 Gene Sequencing with CNV Detection$890.00
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection$890.00
IL-12 Receptor B1 Deficiency via IL12RB1 Gene Sequencing with CNV Detection$890.00
Ichthyosis Bullosa, Siemens via KRT2 Gene Sequencing with CNV Detection$890.00
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome via MBTPS2 Gene Sequencing with CNV Detection$890.00
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome via FOXP3 Gene Sequencing with CNV Detection$890.00
Intellectual Disability (Syndromic and Non-Syndromic) via HUWE1 Gene Sequencing with CNV Detection$890.00
Intellectual Disability via ADAT3 Gene Sequencing with CNV Detection$890.00
Intellectual Disability via CRBN Gene Sequencing with CNV Detection$890.00
Intellectual Disability via MYT1L Gene Sequencing with CNV Detection$890.00
Intellectual Disability via PIGG Gene Sequencing with CNV Detection$890.00
Intellectual Disability via TUSC3 Gene Sequencing with CNV Detection$890.00
Intellectual Disability, X-linked, Claes-Jensen Type via KDM5C Gene Sequencing with CNV Detection$890.00
Interstitial Lung Disease Sequencing Panel with CNV Detection$890.00
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection$890.00
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection$890.00
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection$890.00
Junctional Epidermolysis Bullosa via COL17A1 Gene Sequencing with CNV Detection$890.00
Juvenile Paget Disease via TNFRSF11B Gene Sequencing with CNV Detection$890.00
KLICK Syndrome via POMP Gene Sequencing with CNV Detection$890.00
Karyomegalic Tubulointerstitial Nephritis (KTN) via FAN1 Gene Sequencing with CNV Detection$890.00
Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection$890.00
Kindler Syndrome via FERMT1 Gene Sequencing with CNV Detection$890.00
Knobloch Syndrome, Type I via COL18A1 Gene Sequencing with CNV Detection$890.00
L-2-Hydroxyglutaric Aciduria Type I via L2HGDH Gene Sequencing with CNV Detection$890.00
LAS1L-Related Disorders via LAS1L Gene Sequencing with CNV Detection$890.00
LIG4 Syndrome via LIG4 Gene Sequencing with CNV Detection$890.00
Lafora Disease via EPM2A Gene Sequencing with CNV Detection$890.00
Leber Congenital Amaurosis 4 (LCA4) via AIPL1 Gene Sequencing with CNV Detection$890.00
Leber Congenital Amaurosis Sequencing Panel with CNV Detection$890.00
Left Ventricular Noncompaction (LVNC) Sequencing Panel with CNV Detection$890.00
Left Ventricular Noncompaction (LVNC) via DTNA Gene Sequencing with CNV Detection$890.00
Leigh Syndrome Associated With Mitochondrial Complex I Deficiency via NDUFAF2 Gene Sequencing with CNV Detection$890.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFA9 Gene Sequencing with CNV Detection$890.00
Leigh Syndrome Associated with Mitochondrial Complex I Deficiency via NDUFS7 Gene Sequencing with CNV Detection$890.00
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection$1280.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B2 Gene Sequencing with CNV Detection$890.00
Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy via EIF2B5 Gene Sequencing with CNV Detection$890.00
Limb Girdle Muscular Dystrophy Type 1G via HNRNPDL Gene Sequencing with CNV Detection$890.00
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection$890.00
Lipodystrophy and Heritable Pulmonary Arterial Hypertension via CAV1 Gene Sequencing with CNV Detection$890.00
Loeys-Dietz Syndrome 4 via TGFB2 Gene Sequencing with CNV Detection$890.00
Long QT Syndrome via KCNJ5 Gene Sequencing with CNV Detection$890.00
Long QT Syndrome via SCN4B Gene Sequencing with CNV Detection$890.00
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via MED12 Gene Sequencing with CNV Detection$890.00
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection$890.00
Lymphedema-Distichiasis Syndrome via FOXC2 Gene Sequencing with CNV Detection$890.00
Lynch Syndrome via MLH3 Gene Sequencing with CNV Detection$890.00
MGME1-Related Mitochondrial DNA Depletion Syndrome via MGME1 Gene Sequencing with CNV Detection$890.00
MRPL3-Related Combined Oxidative Phosphorylation Deficiency via MRPL3 Gene Sequencing with CNV Detection$890.00
Macrocephaly, Alopecia, Cutis Laxa and Scoliosis (MACS) Syndrome via RIN2 Gene Sequencing with CNV Detection$890.00
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection$890.00
Male Infertility Sequencing Panel with CNV Detection$990.00
Male Infertility with Globozoospermia via PICK1 Gene Sequencing with CNV Detection$890.00
Malonyl-CoA Decarboxylase Deficiency via MLYCD Gene Sequencing with CNV Detection$890.00
Maturity Onset Diabetes of Young (MODY) via KLF11 Gene Sequencing with CNV Detection$890.00
Maturity Onset Diabetes of the Young (MODY) via APPL1 Gene Sequencing with CNV Detection$890.00
McLeod Syndrome via XK Gene Sequencing with CNV Detection$890.00
Meckel-Gruber syndrome via B9D1 Gene Sequencing with CNV Detection$890.00
Medullary Cystic Kidney Disease type 2 and Familial Juvenile Hyperuricemic Nephropathy type 1 via UMOD Gene Sequencing with CNV Detection$890.00
Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via SUFU Gene Sequencing with CNV Detection$890.00
Meesmann Corneal Dystrophy (MCD) via KRT12 Gene Sequencing with CNV Detection$890.00
Meier-Gorlin Syndrome via ORC4 Gene Sequencing with CNV Detection$890.00
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via BHLHA9 Gene Sequencing with CNV Detection$890.00
Metaphyseal Chondrodysplasia, Schmid Type (MCDS) via COL10A1 Gene Sequencing with CNV Detection$890.00
Methionine Adenosyltransferase I/III Deficiency via MAT1A Gene Sequencing with CNV Detection$890.00
Methylmalonic Aciduria and/or Homocystinuria via CD320 Gene Sequencing with CNV Detection$890.00
Microcephaly, Seizures and Developmental Delay via PNKP Gene Sequencing with CNV Detection$890.00
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$890.00
Mitochondrial Complex I Deficiency via NDUFA11 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFAF1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFB9 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFS6 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFV1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NDUFV2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex I Deficiency via NUBPL Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection$890.00
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$890.00
Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via LYRM7 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCC2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCRB Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex III Deficiency via UQCRC2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$890.00
Mitochondrial Complex IV Deficiency via APOPT1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via COA6 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via COX15 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via COX20 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via FASTKD2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex IV Deficiency via SCO1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency Sequencing Panel with CNV Detection (Nuclear Genes)$890.00
Mitochondrial Complex V Deficiency via ATP5A1 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency via ATPAF2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Complex V Deficiency via TMEM70 Gene Sequencing with CNV Detection$890.00
Mitochondrial Hypomagnesemia via SARS2 Gene Sequencing with CNV Detection$890.00
Mitochondrial Phosphate Carrier Deficiency via SLC25A3 Gene Sequencing with CNV Detection$890.00
Mitochondrial Phosphoenolpyruvate Carboxykinase 2 Deficiency via PCK2 Gene Sequencing with CNV Detection$890.00
Molybdenum Cofactor Deficiency Type A via MOCS1 Gene Sequencing with CNV Detection$890.00
Molybdenum Cofactor Deficiency Type B via MOCS2 Gene Sequencing with CNV Detection$890.00
Molybdenum Cofactor Deficiency via GPHN Gene Sequencing with CNV Detection$890.00
Monogenic Obesity via MC4R Gene Sequencing with CNV Detection$890.00
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection$890.00
Mowat-Wilson Syndrome via ZEB2 Gene Sequencing with CNV Detection$890.00
Mucopolysaccharidosis Type IVA / Morquio Type A Disease via GALNS Gene Sequencing with CNV Detection$890.00
Mucopolysaccharidosis Type IX via HYAL1 Gene Sequencing with CNV Detection$890.00
Myoclonus-Dystonia Syndrome via SGCE Gene Sequencing with CNV Detection$890.00
Myofibrillar Myopathy via DES Gene Sequencing with CNV Detection$890.00
Myofibrillar Myopathy, Childhood Onset via BAG3 Gene Sequencing with CNV Detection$890.00
Myopathy with Lactic Acidosis via ISCU Gene Sequencing with CNV Detection$890.00
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection$890.00
Myotilinopathy via MYOT Gene Sequencing with CNV Detection$890.00
NSDHL-Related Disorders via NSDHL Gene Sequencing with CNV Detection$890.00
Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection$890.00
Nemaline Myopathy With Cores (NEM6) via KBTBD13 Gene Sequencing with CNV Detection$890.00
Neonatal Crisis Sequencing Panel with CNV Detection$2490.00
Nephrogenic Diabetes Insipidus (NDI) and Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) via AVPR2 Gene Sequencing with CNV Detection$890.00
Nephrolithiasis via SLC26A1 Gene Sequencing with CNV Detection$890.00
Nephronophthisis via GLIS2/NPHP7 Gene Sequencing with CNV Detection$890.00
Nephronophthisis via NEK8/NPHP9 Gene Sequencing with CNV Detection$890.00
Nephronophthisis-Like Nephropathy-1 (NPHPL1) via XPNPEP3 Gene Sequencing with CNV Detection$890.00
Nephrotic Syndrome via EMP2 Gene Sequencing with CNV Detection$890.00
Nephrotic Syndrome via KANK4 Gene Sequencing with CNV Detection$890.00
Neuroblastoma Sequencing Panel with CNV Detection$1000.00
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection$930.00
Neurofibromatosis Type 2 via NF2 Gene Sequencing with CNV Detection$890.00
Neurohypophyseal Diabetes Insipidus (NDI) via AVP Gene Sequencing with CNV Detection$890.00
Neuronal Ceroid Lipofuscinosis 13 via CTSF Gene Sequencing with CNV Detection$890.00
Non-syndromic Autosomal Recessive Intellectual Diasbility via TRAPPC9 Gene Sequencing with CNV Detection$890.00
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection$1280.00
Noonan Syndrome via RIT1 Gene Sequencing with CNV Detection$890.00
Oculocutaneous Albinism Type 6 (OCAVI) via SLC24A5 Gene Sequencing with CNV Detection$890.00
Oculocutaneous Albinism Type 7 (OCAVII) via C10orf11 Gene Sequencing with CNV Detection$890.00
Oguchi Disease and Retinitis Pigmentosa (RP47) via SAG Gene Sequencing with CNV Detection$890.00
Oligodontia-Colorectal Cancer via AXIN2 Gene Sequencing with CNV Detection$890.00
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection$890.00
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection$890.00
Orotic Aciduria via UMPS Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection$890.00
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection$890.00
Osteogenesis Imperfecta via BMP1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via CRTAP Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via P3H1 / LEPRE1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via SERPINF1 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via SP7 Gene Sequencing with CNV Detection$890.00
Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection$890.00
Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection$890.00
Osteopetrosis via OSTM1 Gene Sequencing with CNV Detection$890.00
P450 Oxidoreductase Deficiency via POR Gene Sequencing with CNV Detection$890.00
PITX2- Related Disorders via PITX2 Gene Sequencing with CNV Detection$890.00
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection$890.00
PLP1-Related Disorders via PLP1 Gene Sequencing with CNV Detection$890.00
PTPN11-Related Disorders via PTPN11 Gene Sequencing with CNV Detection$890.00
Paget Disease of Bone (PDB) Sequencing Panel with CNV Detection$890.00
Palmoplantar Keratoderma, Epidermolytic via KRT9 Gene Sequencing with CNV Detection$890.00
Pan Cardiomyopathy Sequencing Panel with CNV Detection$990.00
Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection$890.00
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection$890.00
Paris-Trousseau Thrombocytopenia via FLI1 Gene Sequencing with CNV Detection$890.00
Parkinsonism with Spasticity and Mental Retardation with Epilepsy, Hedera Type via ATP6AP2 Gene Sequencing with CNV Detection$890.00
Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via PNKD Gene Sequencing with CNV Detection$890.00
Paroxysmal Paralytic Rhabdomyolysis via LPIN1 Gene Sequencing with CNV Detection$890.00
Peeling Skin Syndrome via TGM5 Gene Sequencing with CNV Detection$890.00
Pelger-Huet Anomaly and Greenberg Skeletal Dysplasia via LBR Gene Sequencing with CNV Detection$890.00
Pendred Syndrome and Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct via FOXI1 Gene Sequencing with CNV Detection$890.00
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection$890.00
Perrault Syndrome Type 2 via HARS2 Gene Sequencing with CNV Detection$890.00
Perrault Syndrome Type 4 via LARS2 Gene Sequencing with CNV Detection$890.00
Peters Plus Syndrome via B3GALTL/B3GLCT Gene Sequencing with CNV Detection$890.00
Pitt-Hopkins Syndrome via TCF4 Gene Sequencing with CNV Detection$890.00
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection$890.00
Polyglucosan Body Myopathy Type I, with or without Immunodeficiency, via RBCK1 Gene Sequencing with CNV Detection$890.00
Pontocerebellar Hypoplasia via CHMP1A Gene Sequencing with CNV Detection$890.00
Pontocerebellar Hypoplasia via VPS53 Gene Sequencing with CNV Detection$890.00
Popliteal Pterygium Syndrome 2, Lethal Type via RIPK4 Gene Sequencing with CNV Detection$890.00
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection$890.00
Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection$890.00
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection$890.00
Premature Ovarian Failure via HFM1 Gene Sequencing with CNV Detection$890.00
Premature Ovarian Failure via MCM9 Gene Sequencing with CNV Detection$890.00
Premature Ovarian Failure/Ovarian Dysgenesis via SOHLH1 Gene Sequencing with CNV Detection$890.00
Primary Aldosteronism Sequencing Panel with CNV Detection$890.00
Primary Aldosteronism via CACNA1D Gene Sequencing with CNV Detection$890.00
Primary Aldosteronism via CACNA1H Gene Sequencing with CNV Detection$1140.00
Primary Ciliary Dyskinesia (PCD) via C21ORF59 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via CCDC151 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via CCNO Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via DNAJB13 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via DNAL1 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via NME8 (TXNDC3) Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via PIH1D3 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via RSPH3 Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via RSPH4A Gene Sequencing with CNV Detection$890.00
Primary Ciliary Dyskinesia (PCD) via ZMYND10 Gene Sequencing with CNV Detection$890.00
Primary Familial and Congenital Polycythemia (PFCP) via EPOR Gene Sequencing with CNV Detection$890.00
Primary Immunodeficiency via IRAK4 Gene Sequencing with CNV Detection$890.00
Primary Macronodular Adrenal Hyperplasia via ARMC5 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via CEP152 Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via STIL Gene Sequencing with CNV Detection$890.00
Primary Microcephaly, Autosomal Recessive, via WDR62 Gene Sequencing with CNV Detection$890.00
Primary Pigmented Nodular Adrenocortical Disease via PDE11A Gene Sequencing with CNV Detection$890.00
Primordial Dwarfism via POC1A Gene Sequencing with CNV Detection$890.00
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection$890.00
Primrose Syndrome via ZBTB20 Gene Sequencing with CNV Detection$890.00
Protein C Deficiency via PROC Gene Sequencing with CNV Detection$890.00
Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection$890.00
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection$890.00
Pyridoxine 5'-Phosphate Oxidase Deficiency via PNPO Gene Sequencing with CNV Detection$890.00
Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection$890.00
Pyruvate Dehydrogenase E3-Binding Protein (E3BP) Deficiency via PDHX Gene Sequencing with CNV Detection$890.00
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency via LIAS Gene Sequencing with CNV Detection$890.00
Pyruvate Dehydrogenase Phosphatase Deficiency via PDP1 Gene Sequencing with CNV Detection$890.00
Pyruvate Kinase Deficiency with Hemolytic Anemia via PKLR Gene Sequencing with CNV Detection$890.00
RAF1-Related Disorders via RAF1 Gene Sequencing with CNV Detection$890.00
REEP1-Related Disorders via REEP1 Gene Sequencing with CNV Detection$890.00
RHO-Related Disorders via RHO Gene Sequencing with CNV Detection$890.00
Renal Cysts and Diabetes Syndrome via HNF1B Gene Sequencing with CNV Detection$890.00
Renal Hypomagnesemia 3 via CLDN16 Gene Sequencing with CNV Detection$890.00
Renal Hypouricemia Type 2 via SLC2A9 Gene Sequencing with CNV Detection$890.00
Renpenning Syndrome via PQBP1 Gene Sequencing with CNV Detection$890.00
Restrictive Dermopathy and Mandibuloacral Dysplasia with Type B Lipodystrophy via ZMPSTE24 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection$990.00
Retinitis Pigmentosa 38 (RP38) via MERTK Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via CNGB1 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via IMPDH1 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection$890.00
Retinitis Pigmentosa via PRPF8 Gene Sequencing with CNV Detection$890.00
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection$890.00
Rhabdoid Tumor Predisposition Syndrome via SMARCB1 Gene Sequencing with CNV Detection$890.00
Robinow Syndrome and Autosomal Recessive Brachydactyly, Type B1 via ROR2 Gene Sequencing with CNV Detection$890.00
Rotor Syndrome Sequencing Panel with CNV Detection$890.00
Rotor Syndrome via SLCO1B1 Gene Sequencing with CNV Detection$890.00
Rotor Syndrome via SLCO1B3 Gene Sequencing with CNV Detection$890.00
S-Adenosylhomocysteine Hydrolase Deficiency via AHCY Gene Sequencing with CNV Detection$890.00
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection$890.00
SURF1-Related Leigh Syndrome (LS) via SURF1 Gene Sequencing with CNV Detection$890.00
Schnyder Crystalline Corneal Dystrophy (SCCD) via UBIAD1 Gene Sequencing with CNV Detection$890.00
Seckel Syndrome, Primary Microcephaly and Familial Cutaneous Telangiectasia and Cancer Syndrome via ATR Gene Sequencing with CNV Detection$890.00
Sengers Syndrome via AGK Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia (Dursun Syndrome) via G6PC3 Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia and Cyclic Neutropenia via ELANE Gene Sequencing with CNV Detection$890.00
Severe Congenital Neutropenia and Neutrophilia via CSF3R Gene Sequencing with CNV Detection$890.00
Short Chain Acyl-CoA Dehydrogenase Deficiency via ACADS Gene Sequencing with CNV Detection$890.00
Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection$890.00
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection$1490.00
Small Patella Syndrome via TBX4 Gene Sequencing with CNV Detection$890.00
Smith-Magenis and Potocki-Lupski syndromes via RAI1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 10 via KIF5A Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 11 via SPG11 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 12 via RTN2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 15 via ZFYVE26 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 18 via ERLIN2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 20 (Troyer Syndrome) via SPG20 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 21 (Mast Syndrome) via SPG21(ACP33) Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 26 via B4GALNT1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 28 via DDHD1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 35 via FA2H Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 4 via SPAST Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 46 via GBA2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 47 via AP4B1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 48 via AP5Z1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 49 via TECPR2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 50 via AP4M1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 51 via AP4E1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 52 via AP4S1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 54 via DDHD2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 56 via CYP2U1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 58 via KIF1C Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 5A via CYP7B1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 6 via NIPA1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 61 via ARL6IP1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 62 via ERLIN1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 72 via REEP2 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 75 via MAG Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 76 via CAPN1 Gene Sequencing with CNV Detection$890.00
Spastic Paraplegia 8 via WASHC5/KIAA0196 Gene Sequencing with CNV Detection$890.00
Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via VAPB Gene Sequencing with CNV Detection$890.00
Spinocerebellar Ataxia 21 via TMEM240 Gene Sequencing with CNV Detection$890.00
Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Hand Type (SMED-SL) via DDR2 Gene Sequencing with CNV Detection$890.00
Spondylocostal Dysostosis via DLL3 Gene Sequencing with CNV Detection$890.00
Spondylocostal Dysostosis via HES7 Gene Sequencing with CNV Detection$890.00
Stargardt Disease (STGD) and Macular Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection$890.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ6 Gene Sequencing with CNV Detection$890.00
Steroid-Resistant Nephrotic Syndrome and Coenzyme Q10 Deficiency via COQ8B/ADCK4 Gene Sequencing with CNV Detection$890.00
Sudden Cardiac Arrest Sequencing Panel with CNV Detection$890.00
Syndromic Intellectual Disability/Autism Spectrum Disorder via DYRK1A Gene Sequencing with CNV Detection$890.00
TARP Syndrome via RBM10 Gene Sequencing with CNV Detection$890.00
TFG-Related Disorders via TFG Gene Sequencing with CNV Detection$890.00
TGFBI-Associated Corneal Dystrophies via TGFBI Gene Sequencing with CNV Detection$890.00
TP63-Related Disorders via TP63 Gene Sequencing with CNV Detection$890.00
TREM2-Related Disorders via TREM2 Gene Sequencing with CNV Detection$890.00
TSFM-Related Combined Oxidative Phosphorylation Deficiency via TSFM Gene Sequencing with CNV Detection$890.00
TULP1-Associated Disorders via TULP1 Gene Sequencing with CNV Detection$890.00
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome via KCNH1 Gene Sequencing with CNV Detection$890.00
Tenorio Syndrome via RNF125 Gene Sequencing with CNV Detection$890.00
Thiamine Responsive Megaloblastic Anemia via SLC19A2 Gene Sequencing with CNV Detection$890.00
Thiopurine S-Methyltransferase (TPMT) Deficiency via TPMT Gene Sequencing with CNV Detection$890.00
Thrombocytopenia and Related Hematopoietic Disorders via GATA1 Gene Sequencing with CNV Detection$890.00
Thrombocytopenia via CYCS Gene Sequencing with CNV Detection$890.00
Thromboxane A2 Receptor Deficiency via TBXA2R Gene Sequencing with CNV Detection$890.00
Thyroid Hormone Resistance via THRB Gene Sequencing with CNV Detection$890.00
Tooth Agenesis Sequencing Panel with CNV Detection$890.00
Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection$890.00
Townes-Brocks Syndrome via SALL1 Gene Sequencing with CNV Detection$890.00
Tricho-Rhino-Phalangeal Syndrome Types I & III via TRPS1 Gene Sequencing with CNV Detection$890.00
Trimethylaminuria via FMO3 Gene Sequencing with CNV Detection$890.00
Tropomyosin 2-Related Disorders via TPM2 Gene Sequencing with CNV Detection$890.00
Tumor Predisposition Syndrome, Uveal Melanoma and Mesothelioma via BAP1 Gene Sequencing with CNV Detection$890.00
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection$890.00
Ulnar-Mammary Syndrome via TBX3 Gene Sequencing with CNV Detection$890.00
Urofacial Syndrome 1 via HPSE2 Gene Sequencing with CNV Detection$890.00
Urofacial Syndrome 2 via LRIG2 Gene Sequencing with CNV Detection$890.00
Usher Syndrome Type 1 via USH1G Gene Sequencing with CNV Detection$890.00
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via CIB2 Gene Sequencing with CNV Detection$890.00
Van Maldergem Syndrome (Cerebro-Facio-Articular Syndrome) via DCHS1 Gene Sequencing with CNV Detection$890.00
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection$890.00
WFS1-Related Disorders via WFS1 Gene Sequencing with CNV Detection$890.00
Waardenburg Syndrome Type IIA via MITF Gene Sequencing with CNV Detection$890.00
Walker-Warburg Syndrome via TMEM5 Gene Sequencing with CNV Detection$890.00
Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) Syndrome via CXCR4 Gene Sequencing with CNV Detection$890.00
Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection$890.00
White-Sutton Syndrome via POGZ Gene Sequencing with CNV Detection$890.00
Wieacker-Wolff Syndrome via ZC4H2 Gene Sequencing with CNV Detection$890.00
Wolfram Syndrome Type 2 via CISD2 Gene Sequencing with CNV Detection$890.00
Woodhouse-Sakati Syndrome via DCAF17 Gene Sequencing with CNV Detection$890.00
X-Linked Intellectual Disability Sequencing Panel with CNV Detection$990.00
X-Linked Lissencephaly-2 via ARX Gene Sequencing with CNV Detection$890.00
X-Linked Spondyloepiphyseal Dysplasia Tarda (SEDT) via TRAPPC2 Gene Sequencing with CNV Detection$890.00
X-linked Heterotaxy (HTX1) via ZIC3 Gene Sequencing with CNV Detection$890.00
X-linked Intellectual Disability via RPL10 Gene Sequencing with CNV Detection$890.00
X-linked Megalocornea 1 (MGC1) via CHRDL1 Gene Sequencing with CNV Detection$890.00
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection$890.00
X-linked Sideroblastic Anemia via ALAS2 Gene Sequencing with CNV Detection$890.00
Xanthinuria Type II via MOCOS Gene Sequencing with CNV Detection$890.00
Xeroderma Pigmentosum via DDB2 Gene Sequencing with CNV Detection$890.00
Xeroderma Pigmentosum via POLH Gene Sequencing with CNV Detection$890.00
β-Mannosidase Deficiency via MANBA Gene Sequencing with CNV Detection$890.00
α-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection$890.00
Custom Panels

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Available Test Methods

  • Sanger - BiDirectional Sanger Sequencing
  • Del/Dup - Deletion/Duplication and Array (aCGH)
  • NextGen - NextGen Sequencing (NGS)