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1p36 Deletion Syndrome ABCB4/MDR3 Sequencing ABCB11 Sequencing ACADL Sequencing ACADVL Sequencing a-N-Acetylglucosaminidase Achondroplasia (ACH) Acid Lipase Acid Maltase Adenine Nucleotide Translocase 1 (ANT1/ SLC25A4)
Sequencing Adenosine Deaminase Adenosine Deaminase Deficiency (SCID) Adrenal Hypoplasia Congenita (DAX-1) AIRE Sequencing Alagille Syndrome Aldolase B Deficiency Alpers Syndrome Amino Acid Analysis, Quantitative Aneuploidy Screen Angelman Syndrome (AS) Aniridia/WAGR Syndrome Arginase Argininemia Argininosuccinate Lyase Argininosuccinate Synthetase Argininosuccinic Aciduria ARX Related Disorders Arylsulfatase A Arylsulfatase A Deficiency - ARSA Sequencing Arylsulfatase B Ashkenazic Genetic Disease Screen Aspartylglucosamino Aminohydrolase Aspartylglucosaminuria ATPase Subunits ATP8B1 Sequencing Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal
Dystrophy (APECED) Autosomal Dominant Progressive External Ophthalmoplegia
(ad-PEO) Autosomal Dominant Progressive External Ophthalmoplegia
(ad-PEO) with mtDNA Deletions-4 (PEOA4)
BCS1L Sequencing Beckwith-Wiedemann Syndrome Benign Recurrent Intrahepatic Cholestasis 1 (BRIC1) Benign Recurrent Intrahepatic Cholestasis 2 (BRIC2) Bile Salt Excretory Pump Disease (BSEP) Biotinidase Bloom Syndrome Byler Disease
CACT Deficiency Cancer Cytogenetic Studies Carbamyl Phosphate Synthetase Carbamyl Phosphate Synthetase Deficiency Carnitine-Acylcarnitine Translocase Deficiency Carnitine Combination Analysis Carnitine, Free And Total Carnitine Palmitoyltransferase 1 Deficiency
- CPT1A Sequencing Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing Carnitine Palmitoyltransferase II Deficiency
- CPT2 Sequencing Carnitine Transporter Deficiency Carotid Body Tumors and Multiple Extraadrenal
Pheochromocytomas CDKL5 Sequencing CFTR 5T Variant Analysis Charcot-Marie-Tooth Disease Type 1A (CMT1A) CHD7 Sequencing Cholesterol Ester Storage Disease Chromosomal Microarray Analysis Citrin Deficiency Citrullinemia Citrullinemia Type II (CTLN2) Cleidocranial Dysplasia COL10A1 Sequencing Complex I Subunits Complex III Deficiency (BCS1L Related) Complex IV (COX) Deficiency Connexin 26 (GJB2) Coenzyme Q10 Deficiency COX10 Sequencing CRTAP Sequencing Creatine/Guanidinoacetate Analysis Creatine Transporter (CRTR) Deficiency - Cri-Du-Chat Syndrome (5p-) Cystic Fibrosis (CF) Cystine in White Blood Cells Cytochrome b Subunit Cytochrome c Oxidase (COX) Subunits Cytogenetic Studies
Deafness-Dystonia-Optic Neuropathy Syndrome
(DDP1) Dentatorubral Pallidoluysian Atrophy (DPRLA) Deoxynucleosides Deoxyguanosine Kinase (DGUOK) Sequencing Diamond-Blackfan Anemia DiGeorge/Velocardiofacial Syndrome Dihydrolipoyl dehydrogenase
(E3) Deficiency - DLD Sequencing Duchenne/Becker Muscular Dystrophy (DMD/BMD)
EIF2B5 Sequencing
Electron Transport Chain Enzymes Encephalomyopathic Mitochondrial DNA Depletion
Syndrome
Fabry Disease FAH Sequencing Familial Adenomatous Polyosis (FAP) Familial Dysautonomia Familial Nonchromaffin Paragangliomas Fatal Infantile Lactic
Acidosis with mtDNA Depletion - SUCLG1 Sequencing Fragile X Syndrome Friedreich Ataxia a-Fucosidase Fucosidosis
Galactocerebrosidase-b-Galactosidase Galactose-1-Phosphate Uridyl Galactosemia a-Galactosidase b-Galactosidase GATM Sequencing Gaucher Disease (GD) GJB2 (Connexin 26) GJB6- Related DFNB1 Hereditary Hearing
Loss Globoid Cell Leukodystrophy a-Glucosidase b-Glucosidase
b-Glucuronidase Glucuronidase Deficiency Glycerol Kinase Deficiency (GK) Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing GM1 Gangliosidosis Goltz Syndrome Guanidinoacetate/Creatine Analysis Guanidinoacetate Methyltransferase (GAMT)
- GAMT Sequencing
Hemochromatosis Hepatocerebral mtDNA Depletion Panel - POLG1,
DGUOK & MPV17 Sequencing Hereditary Fructose Intolerance - ALDOB Sequencing Hereditary Hearing Loss Hereditary Neuropathy with Liability to Pressure
Palsies (HNPP) Hereditary Non-polyposis Colorectal Cancer (HNPCC) Hexosaminidase A & B Homocysteine (Total Plasma) HPRT1 Sequencing Huntington Disease Hurler-Scheie Mucopolysaccharidosis Hypoxanthine Phosphoribosyl Transferase (HPRT)
a-L-Iduronidase Incontinentia Pigmenti Inherited Peripheral Neuropathies Isolated Lissencephaly
Kallmann Syndrome Kearns-Sayre Syndrome Krabbe Disease Kennedy Disease
L-Arginine:Glycine Amidinotransferase Deficiency
- GATM Sequencing Langer-Giedion Syndrome (LGS) Leber's Optic Neuropathy (LON) Point Mutations Leigh Syndrome Lesch-Nyhan Syndrome Leukoencephalopathy with Vanishing White Matter Li–Fraumeni syndrome (LFS) LMX1B Sequencing Long Chain Acyl-CoA Dehydrogenase Deficiency
(LCAD) Very Long Chain Acyl-CoA Dehydrogenase Deficiency
(VLCAD) Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
(LCHAD) Lowe Syndrome
a-Mannosidase Mannosidosis Maple
Syrup Urine Disease Type 3 - DLD Sequencing Maternally Inherited Sensorineural Hearing Loss
(MISNHL) MDR3 Disease Medium Chain acyl-CoA Dehydrogenase Deficiency
(MCAD) Methylmalonic Acid, Quantitative Methylmalonic Aciduria and Homocysteinuria, cblC Type Microphthalmia with Linear Skin Lesions (MLS) Microphthalmia, Dermal Aplasia and Sclerocornea
(MIDAS) Miller-Dieker Syndrome Mitochondrial DNA Depletion and Multiple Deletions
- POLG1, TK2, SUCLA2 & DGUOK Sequencing Mitochondrial DNA Screening Panel (Point Mutations
and Deletions) Mitochondrial DNA Screen Panel Mitochondrial Encephalomyopathy, Lactic Acidosis,
and Stroke-Like Episodes (MELAS) Mitochondrial/Metabolic oligonucleotide array
CGH analysis/MitoMet oligo aCGH Mitochondrial Respiratory Chain Complex II Deficiency MLS/MIDAS Syndrome MMACHC Sequencing Mohr-Tranebjaerg syndrome Molybdenum Cofactor Disease Morquio B MPS III MPS IVb MPS VI MPS VII MPV17 Sequencing MTHFR Variant Analysis Mucopolysaccharidosis I (MPS1) - IDUA Sequencing Mucopolysaccharidosis Type II (MPS II) - IDS Sequencing Multiple Carboxlylase Deficiency Multiple Exostoses MYH Associated Polyposis (MYH) Myoclonic Epilepsy Associated with Ragged-Red
Fibers (MERRF) Myopathic Mitochondrial DNA Depletion Syndrome Myotonic Dystrophy
N-Acetylglutamate Synthase Deficiency - NAGS Sequencing Nail-Patella Syndrome Neuraminidase
Neurofibromatosis 1 (NF1) Neuropathy, Ataxia, and Retinitis Pigmentosa
(NARP) and Mitochondrial DNA Associated Leigh Syndrome Niemann-Pick Disease Non-syndromic Hearing Loss Noonan Syndrome Nucleoside Phosphorylase
OCRL Optic Atrophy Type I - OPA1 Sequencing Organic Acid Profile, Urine Organic Cation Transporter
(OCTN2) Sequencing Ornithine Transcarbamylase Osteogenesis Imperfecta,
Autosomal Recessive OTC Deficiency
PDSS1 Sequencing PDSS2 Sequencing Pearson Syndrome Pelizaeus-Merzbacher Disease (PMD) Phenylalanine Phenylketonuria Pheochromocytoma
(PHEO) and Paraganglioma (PGL)-Associated Syndromes Panel Phosphatidylinositol-4,5- Bisphoshate Phosphatase POLG1 Related Disorders - POLG1 Sequencing POLG2 Sequencing Polyols, Urinary Pompe Disease PORCN Sequencing Potocki/Shaffer Syndrome (EXT2 Only) Prader-Willi Syndrome (PWS) Progressive Familial Intrahepatic Cholestasis
1 (PFIC1) Progressive Familial Intrahepatic Cholestasis
2 (PFIC2) Progressive Familial Intrahepatic Cholestasis
3 (PFIC3) Purine Nucleoside Phosphorylase Purine Profile, Urinary Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing
Rett Syndrome (MECP2) RhD Genotyping Rothmund-Thomson Syndrome (RTS) RPS19 Sequencing RRM2B Sequencing Rubinstein-Taybi Syndrome RUNX2 Sequencing
Sanfilippo B Mucopolysaccharidosis Schmid Metaphyseal Chondrodysplasia SCO1 Sequencing SCO2 Sequencing Sialidase Sialidosis Sickle Cell Disease Skin Fibroblast Culture SLC25A13 Sequencing SLC25A20 Sequencing Sly Smith-Magenis Syndrome SOTOS Syndrome Sphingomyelinase Spinal Muscular Atrophy Spinobulbar Muscular Atrophy Spinocerebellar Ataxia Type 1 (SCA1) Spinocerebellar Ataxia Type 10 (SCA10) SRY SRY Gene Steroid Sulfatase Steroid Sulfatase Deficiency Succinate Dehydrogenase Complex Subunit A (SDHA)
Sequencing Succinate Dehydrogenase Complex Subunit B (SDHB)
Sequencing Succinate Dehydrogenase Complex Subunit C (SDHC)
Sequencing Succinate Dehydrogenase Complex Subunit D (SDHD)
Sequencing Succinylacetone Determination SUCLA2 Sequencing SUCLG1 Sequencing SURF1 Sequencing Systemic Carnitine Deficiency - SLC22A5 Sequencing
TIMM8A Sequencing Tay-Sachs Carrier Testing Tay-Sachs Disease Telomeres Thrombophilia Panel Thymidine Determination Thymidine Kinase (TK2) Sequencing Thymidine Phosphorylase (TP), TYMP Sequencing Trichorhinophalangeal Syndrome (TRSP1) TWINKLE/PEO1 Sequencing Tyrosine/Phenylalanine Tyrosinemia Type 1
UPDG Deficiency
Velocardiofacial Syndrome
WAGR/Aniridia Syndrome Whole Genome Williams Syndrome Wilms Syndrome Wolman Disease Wolf-Hirschhorn Syndrome (4p-)
Xanthinuria X-linked Ichthyosis X-Linked Ocular Albinism (XLOA) |