All Tests List - BCM Medical Genetics Laboratories

1p36 Deletion Syndrome
>> FISH Analysis

ABCA4-Related Disorders - ABCA4 Sequencing
>> DNA Analysis

ABCB4/MDR3 Sequencing
>> Mitochondrial DNA Analysis

ABCB11 Sequencing
>> Mitochondrial DNA Analysis

ACADL Sequencing
>> Mitochondrial DNA Analysis

ACADM Sequencing
>> Mitochondrial DNA Analysis

ACADVL Sequencing
>> Mitochondrial DNA Analysis

a-N-Acetylglucosaminidase
>> Biochemical Analysis

Achondroplasia (ACH)
>> DNA Analysis

Acid Lipase
>> Biochemical Analysis

Acid Maltase
>> Biochemical Analysis

Adenine Nucleotide Translocase 1 (ANT1/ SLC25A4) Sequencing
>> Mitochondrial DNA Analysis

Adenosine Deaminase
>> Biochemical Analysis

Adenosine Deaminase Deficiency (SCID)
>> Biochemical Analysis

Adrenal Hypoplasia Congenita (DAX-1)
>> FISH Analysis

AIRE Sequencing
>> DNA Analysis

Alagille Syndrome
>> FISH Analysis

Aldolase B Deficiency
>> Mitochondrial DNA Analysis

Alpers Syndrome
>> Mitochondrial DNA Analysis

Amino Acid Analysis, Quantitative
>> Biochemical Analysis

Androgen Insensitivity Syndrome
>> AR Sequencing

Aneuploidy Screen
>> FISH Analysis

Angelman Syndrome (AS)
>> DNA Methylation Analysis
>> UBE3A Sequence Analysis
>> FISH Analysis

Aniridia/WAGR Syndrome
>> FISH Analysis

APC-Associated Polyposis Conditions
>> APC Comprehensive
>> APC ONLY - Sequencing
>> APC Deletion/Duplication by MLPA
>> Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements

Arginase
>> Biochemical Analysis
>> ARG1 Sequencing

Argininemia
>> Biochemical Analysis

Argininosuccinate Lyase
>> Biochemical Analysis
>> ASL Sequencing

Argininosuccinate Synthetase
>> Biochemical Analysis

Argininosuccinic Aciduria
>> Biochemical Analysis
>> ASL Sequencing

ARX Related Disorders
>> DNA Analysis

Arylsulfatase A
>> Biochemical Analysis

Arylsulfatase A Deficiency - ARSA Sequencing
>> DNA Analysis

Arylsulfatase B
>> Biochemical Analysis

Ashkenazic Genetic Disease Screen
>> DNA Analysis

Aspartylglucosamino Aminohydrolase
>> Biochemical Analysis

Aspartylglucosaminuria
>> Biochemical Analysis

Aspirin-Like Platelet Disorder
>> DNA Analysis

ATPase Subunits
>> Mitochondrial DNA Analysis

ATP8B1 Sequencing
>> Mitochondrial DNA Analysis

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
>> DNA Analysis

Autosomal Dominant Optic Atrophy 3 - OPA3 Sequencing
>> Mitochondrial DNA Analysis

Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)
>> Panel (includes POLG1, TWINKLE, & ANT1)
>> Adenine Nucleotide Translocase 1 (ANT1/SLC25A4) Sequencing
>> TWINKLE/C10orf2 Sequencing

Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO) with mtDNA Deletions-4 (PEOA4)
>> Mitochondrial DNA Analysis

Autism, Comprehensive Testing
>> Male Specific Comprehensive Autism Panel
>> Female Specific Comprehensive Autism Panel
>> Biochemical 6-Plex

Barth Syndrome
>> Mitochondrial DNA Analysis

BCS1L Sequencing
>> Mitochondrial DNA Analysis

Beckwith-Wiedemann Syndrome
>> FISH Analysis

Benign Recurrent Intrahepatic Cholestasis 1 (BRIC1)
>> Mitochondrial DNA Analysis

Benign Recurrent Intrahepatic Cholestasis 2 (BRIC2)
>> Mitochondrial DNA Analysis

Bile Salt Excretory Pump Disease (BSEP)
>> Mitochondrial DNA Analysis

Biotinidase
>> Biochemical Analysis
>> BTD Sequencing

Bloom's Syndrome
>> Mutation Analysis
>> BLM Sequencing

Byler Disease
>> Mitochondrial DNA Analysis

CACT Deficiency
>> Mitochondrial DNA Analysis

Canavan Disease Screen
>> DNA Analysis

Cancer Cytogenetic Studies
>> Chromosome Analysis
>> FISH Analysis
>> Heme/Onc Chip-44K Oligo Array

Carbamoyl Phosphate Synthetase Deficiency
>> Biochemical Analysis
>> CPS1 Sequencing

Carnitine-Acylcarnitine Translocase Deficiency
>> Mitochondrial DNA Analysis

Carnitine Combination Analysis
>> Biochemical Analysis

Carnitine, Free And Total
>> Biochemical Analysis

Carnitine Palmitoyltransferase 1 Deficiency - CPT1A Sequencing
>> Mitochondrial DNA Analysis

Carnitine Palmitoyltransferase 1 Deficiency - CPT1B Sequencing
>> Mitochondrial DNA Analysis

Carnitine Palmitoyltransferase II Deficiency - CPT2 Sequencing
>> Mitochondrial DNA Analysis

Carnitine Transporter Deficiency
>> Mitochondrial DNA Analysis

Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas
>> Succinate Dehydrogenase Complex Subunit B (SDHB) Sequencing
>> Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing

Cartilage Hair Hypoplasia
>> DNA Analysis

CDKL5 Sequencing
>> DNA Analysis

CFTR 5T Variant Analysis
>> DNA Analysis

Charcot-Marie-Tooth Disease Type 1A (CMT1A)
>> FISH Analysis

CHD7 Sequencing
>> DNA Analysis

Cholesterol Ester Storage Disease
>> Biochemical Analysis

Chromosomal Microarray Analysis (CMA)
>> 180K Oligo Array
>> SNP Array
>> Prenatal

Chromosomal Microarray Analysis of Hematological Malignancies
>> Heme/Onc Chip-44K Oligo Array

Citrin Deficiency
>> Mitochondrial DNA Analysis

Citrullinemia
>> Biochemical Analysis
>> DNA Analysis

Citrullinemia Type II (CTLN2)
>> Mitochondrial DNA Analysis

Cleidocranial Dysplasia
>> DNA Analysis

Coenzyme Q10 Deficiency
>> COQ2 Sequencing
>> PDSS1 Sequencing
>> PDSS2 Sequencing

COL10A1 Sequencing
>> DNA Analysis

COL2A1 Related Disorders - COL2A1 Sequencing
>> DNA Analysis

Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements
>> DNA Analysis

Nuclear Complex 1 Panel
>> NDUFS3 Sequencing
>> NDUFS4 Sequencing
>> NDUFS6 Sequencing
>> NDUFS7 Sequencing
>> NDUFA1 Sequencing
>> NDUFAF2 Sequencing
>> NDUFV1 Sequencing
>> NDUFAF4 (C6ORF66) Sequencing

Complex I Subunits
>> Mitochondrial DNA Analysis

Complex III Deficiency (BCS1L Related)
>> Mitochondrial DNA Analysis

Complex IV (COX) Deficiency
>> SURF1, SCO2, SCO1, and COX10 Sequencing
>> COX6B1 Sequencing
>> COX10 Sequencing
>> COX15 Sequencing
>> FASTKD2 Sequencing
>> SCO1 Sequencing
>> SCO2 Sequencing
>> SURF1 Sequencing

Connexin 26/GJB2 Related Hereditary Hearing Loss
>> DNA Analysis

Coronary Heart Disease Risk Factor (9p21 rs10757278)
>> DNA Analysis

Costello Syndrome
>> DNA Analysis

COX6B1 Sequencing
>> Mitochondrial DNA Analysis

COX10 Sequencing
>> Mitochondrial DNA Analysis

COX15 Sequencing
>> Mitochondrial DNA Analysis

CRTAP Sequencing
>> Gene Sequencing Analysis

Creatine/Guanidinoacetate Analysis
>> Biochemical Analysis

Creatine Transporter (CRTR) Deficiency -
CT1/SLC6A8 Sequencing
>> Mitochondrial DNA Analysis

Cri-Du-Chat Syndrome (5p-)
>> FISH Analysis

Cystic Fibrosis (CF)
>> Mutation Analysis
>> CFTR Sequencing

Cystine in White Blood Cells
>> Biochemical Analysis

Cytochrome b Subunit
>> Mitochondrial DNA Analysis

Cytochrome c Oxidase (COX) Subunits
>> Mitochondrial DNA Analysis

Cytochrome P450 2C19 (CYP2C19) Genotyping
>> DNA Analysis

Cytochrome P450 2D6 (CYP2D6) Genotyping
>> DNA Analysis

Cytogenetic Studies
>> Chromosome Analysis

Deafness-Dystonia-Optic Neuropathy Syndrome (DDP1)
>> Mitochondrial DNA Analysis

Dentatorubral Pallidoluysian Atrophy (DPRLA)
>> DNA Analysis

Deoxynucleosides
>> Biochemical Analysis

Deoxyguanosine Kinase (DGUOK) Sequencing
>> Mitochondrial DNA Analysis

Diamond-Blackfan Anemia
>> DNA Analysis

DiGeorge/Velocardiofacial Syndrome
>> FISH Analysis

Dihydrolipoyl dehydrogenase (E3) Deficiency - DLD Sequencing
>> Mitochondrial DNA Analysis

Dyskeratosis Congenita
>> DNA Analysis

Ehlers-Danlos Syndrome - PLOD1 Sequencing
>> DNA Analysis

EIF2B5 Sequencing
>> DNA Analysis

Electron Transport Chain Enzymes
>> Mitochondrial DNA Analysis

Encephalomyopathic Mitochondrial DNA Depletion Syndrome
>> SUCLA2 Sequencing

Fabry Disease
>> Biochemical Analysis
>> DNA Analysis

Factor V Leiden (R506Q)
>> DNA Analysis

FAH Sequencing
>> Mitochondrial DNA Analysis

Familial Adenomatous Polyosis (FAP)
>> APC Sequencing & Deletion/Duplication Analysis

Familial Dysautonomia
>> DNA Analysis

Familial Hypercholesterolemia
>> LDLR Sequencing
>> LDLR Deletion/Duplication

Familial Nonchromaffin Paragangliomas
>> Succinate Dehydrogenase Complex Subunit B (SDHB) Sequencing
>> Succinate Dehydrogenase Complex Subunit C (SDHC) Sequencing
>> Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing

Familial Platelet Disorder with Associated Myeloid Malignancy; Familial Thrombocytopenia with Propensity to Acute Myelogenous Leukemia
>> DNA Analysis

FASTKD2 Sequencing
>> Mitochondrial DNA Analysis

Fatal Infantile Lactic Acidosis with mtDNA Depletion - SUCLG1 Sequencing
>> Mitochondrial Analysis

FMR1-Related Disorders - FMR1 Sequencing
>> DNA Analysis

Focal Dermal Hypoplasia
>> DNA Analysis

FOXG1 Sequencing
>> DNA Analysis

Fragile X Syndrome
>> DNA Analysis
>> FMR1 Sequencing

Friedreich Ataxia
>> Mutation Analysis
>> FXN Sequencing

a-Fucosidase
>> Biochemical Analysis

Fucosidosis
>> Biochemical Analysis

Galactocerebrosidase-b-Galactosidase
>> Biochemical Analysis

Galactose-1-Phosphate Uridyl
Transferase
>> Biochemical Analysis

Galactosemia
>> Biochemical Analysis

a-Galactosidase
>> Biochemical Analysis

b-Galactosidase
>> Biochemical Analysis

GALC Sequencing
>> DNA Analysis

GALNS Sequencing
>> DNA Analysis

GATM Sequencing
>> Mitochondrial DNA Analysis

Gaucher Disease (GD)
>> Biochemical Analysis
>> DNA Analysis

GJB2 (Connexin 26)
>> DNA Analysis

GJB6- Related DFNB1 Hereditary Hearing Loss
>> DNA Analysis

Globoid Cell Leukodystrophy
>> Biochemical Analysis

a-Glucosidase
>> Biochemical Analysis

b-Glucosidase
>> Biochemical Analysis

b-Glucuronidase
>> Biochemical Analysis

Glucuronidase Deficiency
>> Biochemical Analysis

Glycerol Kinase Deficiency (GK)
>> FISH Analysis

Glycogen storage disease type 0 (GSD0) - GYS2 Sequencing
>> Mitochondrial DNA Analysis

Glycogen Storage Disease Type 1A (GSD1A) - G6PC Sequencing
>> Mitochondrial DNA Analysis

GM1 Gangliosidosis
>> Biochemical Analysis

Goltz Syndrome
>> DNA Analysis

GSD II
>> Biochemical Analysis

Guanidinoacetate/Creatine Analysis
>> Biochemical Analysis

Guanidinoacetate Methyltransferase (GAMT) - GAMT Sequencing
>> Mitochondrial DNA Analysis

HADHA Sequencing
>> Mitochondrial DNA Analysis

HADHB Sequencing
>> Mitochondrial DNA Analysis

Hemochromatosis
>> DNA Analysis

Hepatocerebral mtDNA Depletion Panel - POLG1, DGUOK & MPV17 Sequencing
>> Mitochondrial DNA Analysis

Hereditary Fructose Intolerance - ALDOB Sequencing
>> Mitochondrial DNA Analysis

Hereditary Hearing Loss
>> DNA Analysis

Hereditary Hemochromatosis
>> DNA Analysis

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
>> FISH Analysis

Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
>> MLH1 - Comprehensive
>> MLH1 ONLY - Sequencing
>> MLH1 ONLY - Deletion/Duplication by MLPA
>> MSH2 - Comprehensive
>> MSH2 ONLY - Sequencing
>> MSH2 ONLY - Deletion/Duplication by MLPA
>> MSH6 - Comprehensive
>> MSH6 ONLY - Sequencing
>> MSH6 ONLY - Deletion/Duplication by MLPA
>> HNPCC - Comprehensive Panel
>> HNPCC Panel Sequencing
>> Screening (MSI and IHC)
>> PMS2 Sequencing
>> Colorectal Cancer Array-CGH Analysis for Genomic Rearrangements

Hereditary Optic Atrophy
>> LON Point Mutations
>> OPA1 Sequencing
>> OPA3 Sequencing

Hexosaminidase A & B
>> Biochemical Analysis

Holocarboxylase Deficiency - HLCS Sequencing
>> Mitochondrial DNA Analysis

Homocysteine (Total Plasma)
>> Biochemical Analysis

HPRT1 Sequencing
>> DNA Analysis

HRAS Sequencing
>> DNA Analysis

Huntington Disease
>> DNA Analysis

Hurler-Scheie Mucopolysaccharidosis
>> Biochemical Analysis

Hyperlipoproteinemia Type IIA
>> LDLR Sequencing
>> LDLR Deletion/Duplication

Hypoxanthine Phosphoribosyl Transferase (HPRT)
>> Biochemical Analysis

a-L-Iduronidase
>> Biochemical Analysis

Incontinentia Pigmenti
>> DNA Analysis

Infantile Hepatic Mitochondrial DNA Depletion - MPV17 Sequencing
>> Mitochondrial DNA Analysis

Inherited Peripheral Neuropathies
>> FISH Analysis

Isolated Lissencephaly
>> FISH Analysis

Kallmann Syndrome
>> FISH Analysis

Kearns-Sayre Syndrome
>> Mitochondrial DNA Deletion Analysis

Krabbe Disease
>> Biochemical Analysis
>> GALC Sequencing

KRAS Sequencing
>> DNA Analysis

Kennedy Disease
>> DNA Analysis

L-Arginine:Glycine Amidinotransferase Deficiency - GATM Sequencing
>> Mitochondrial DNA Analysis

Langer-Giedion Syndrome (LGS)
>> FISH Analysis

LDLR Sequencing
>> DNA Analysis

Leber's Optic Neuropathy (LHON) Point Mutations
>> Mitochondrial DNA Analysis

Leigh Syndrome
>> Mitochondrial DNA Analysis

LEP Sequencing
>> DNA Analysis

LEPR Sequencing
>> DNA Analysis

LEPRE1 (P3H1) Sequencing
>> Gene Sequencing Analysis

Lesch-Nyhan Syndrome
>> Biochemical Analysis
>> DNA Analysis

Leukoencephalopathy with Vanishing White Matter
>> DNA Analysis

Li-Fraumeni Syndrome (LFS)
>> TP53 Comprehensive
>> TP53 Sequencing only
>> TP53 Deletion/Duplication by MLPA

LIPA Sequencing
>> DNA Analysis

Liver Glycogen Synthase Deficiency
>> Mitochondrial DNA Analysis

LMX1B Sequencing
>> DNA Analysis

Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD)
>> Mitochondrial DNA Analysis

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
>> Mitochondrial DNA Analysis

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
>> Mitochondrial DNA Analysis

Lowe Syndrome
>> Biochemical Analysis
>> DNA Analysis

a-Mannosidase
>> Biochemical Analysis

Mannosidosis
>> Biochemical Analysis

Maple Syrup Urine Disease Type 3 - DLD Sequencing
>> Mitochondrial DNA Analysis

Maroteaux Lamy Mucopolysaccharidosis
>> Biochemical Analysis

Maternally Inherited Sensorineural Hearing Loss (MISNHL)
>> Mitochondrial DNA Analysis

MCCC1-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC1 Sequencing
>> Mitochondrial DNA Analysis

MCCC2-Related 3-methylcrontonyl-CoA-Carboxylase Deficiency - MCCC2 Sequencing
>> Mitochondrial DNA Analysis

MDR3 Disease
>> Mitochondrial DNA Analysis

MECP2 Deletion Analysis
>> DNA Analysis

MECP2 Sequencing
>> DNA Analysis

Medium Chain acyl-CoA Dehydrogenase Deficiency (MCAD)
>> Mitochondrial DNA Analysis

Metachromatic Leukodystrophy
>> Biochemical Analysis
>> ARSA Sequencing

3-methylglutaconic aciduria, Type 2
>> Mitochondrial DNA Analysis

Methylmalonic Acid, Quantitative
>> Biochemical Analysis

Methylmalonic Aciduria and Homocystinuria, cblC Type
>> Mitochondrial DNA Analysis

Microphthalmia with Linear Skin Lesions (MLS)
>> FISH Analysis

Microphthalmia, Dermal Aplasia and Sclerocornea (MIDAS)
>> FISH Analysis

Miller-Dieker Syndrome
>> FISH Analysis

Mitochondrial DNA (mtDNA) Content (qPCR) Analysis
>> Mitochondrial DNA Analysis

Mitochondrial DNA Deletion Syndrome
>> Mitochondrial DNA Deletion Analysis

Mitochondrial DNA Depletion and Multiple Deletions - POLG1, TK2, SUCLA2 & DGUOK Sequencing
>> Mitochondrial DNA Analysis

Mitochondrial DNA Screening Panel (Point Mutations and Deletions)
>> Mitochondrial DNA Analysis

Mitochondrial DNA Screen Panel
Quantification
>> Mitochondrial DNA Analysis

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
>> Mitochondrial DNA Analysis

MitoMet^SM Mitochondrial/Metabolic oligonucleotide array CGH analysis
>> Mitochondrial DNA Analysis

Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) - PUS1 Sequencing
>> Mitochondrial DNA Analysis

Mitochondrial Phosphate Carrier Deficiency - SLC25A3 (PHC) Sequencing
>> Mitochondrial DNA Analysis

Mitochondrial Respiratory Chain Complex II 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

Mitochondrial Respiratory Chain Enzymes
>> Mitochondrial DNA Analysis

MLS/MIDAS Syndrome
>> FISH Analysis

MMAA-Related Methylmalonic Aciduria
>> MMAA Sequencing

MMAB-Related Methylmalonic Aciduria
>> MMAB Sequencing

MMACHC Sequencing
>> Mitochondrial DNA Analysis

MNGIE Syndrome
>> Biochemical Analysis
>> Mitochondrial DNA Analysis

Mohr-Tranebjaerg syndrome
>> Mitochondrial DNA Analysis

Molybdenum Cofactor Disease
>> Biochemical Analysis

Morquio B
>> Biochemical Analysis

MPS III
>> Biochemical Analysis

MPS IVb
>> Biochemical Analysis

MPS VI
>> Biochemical Analysis

MPS VII
>> Biochemical Analysis

MPV17 Sequencing
>> Mitochondrial DNA Analysis

MTHFR Variant Analysis
>> DNA Analysis

Mucopolysaccharidosis I (MPS1) - IDUA Sequencing
>> DNA Analysis

Mucopolysaccharidosis Type II (MPS II)
>> IDS Comprehensive
>> IDS Sequencing only
>> IDS Deletion/Duplication by MLPA & Inversion Analyses
>> IDS Inversion Analysis

Mucopolysaccharidosis IVA - GALNS Sequencing
>> DNA Analysis

Multiple Carboxlylase Deficiency
>> Biochemical Analysis

Multiple Exostoses
>> FISH Analysis

MYH Associated Polyposis (MYH)
>> DNA Analysis

MUT-Related Methylmalonic Aciduria
>> MUT Sequencing

Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)
>> Mitochondrial DNA Analysis

Myopathic Mitochondrial DNA Depletion Syndrome
>> TK2 Sequencing
>> RRM2B Sequencing

Myotonic Dystrophy
>> DNA Analysis

N-Acetylglutamate Synthase Deficiency - NAGS Sequencing
>> Mitochondrial DNA Analysis

Nail-Patella Syndrome
>>DNA Analysis

Neuraminidase
>>Biochemical Analysis

Neurofibromatosis 1 (NF1)
>> FISH Analysis

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) and Mitochondrial DNA Associated Leigh Syndrome
>> Mitochondrial DNA Analysis

Niemann-Pick Disease
>> Biochemical Analysis (Type 1, A&B)
>> DNA Analysis (Type A)
>> NPC1 Sequencing (Type C)
>> NPC2 Sequencing (Type C)

Non-syndromic Hearing Loss
>> DNA Analysis

Noonan Syndrome
>> PTPN11 Sequencing
>> KRAS Sequencing
>> SOS1 Sequencing
>> RAF1 Sequencing

Nucleoside Phosphorylase
>> Biochemical Analysis

Obesity, Monogenic Nonsyndromic
>> LEP Sequencing
>> LEPR Sequencing
>> PCSK1 Sequencing
>> POMC Sequencing

OCRL
>> Biochemical Analysis

Oculocutaneous Albinism
>> Type 1: TYR Sequencing
>> Type 2: OCA2 Sequencing and Targeted Deletion Analysis
>> Type 3: TYRP1 Sequencing
>> Type 4: SLC45A2 Sequencing

Optic Atrophy Type I - OPA1 Sequencing
>> Mitochondrial DNA Analysis

Optic Atrophy 3 - OPA3 Sequencing
>> Mitochondrial DNA Analysis

Organic Acid Profile, Urine
>> Biochemical Analysis

Organic Cation Transporter (OCTN2) Sequencing
>> Mitochondrial DNA Analysis

Ornithine Transcarbamylase
>> Biochemical Analysis
>> Mitochondrial DNA Analysis

Orotic Acid and Orotidine Determination
>> Biochemical Analysis

Osteogenesis Imperfecta, Autosomal Recessive
>> CRTAP Sequencing
>> LEPRE1 (P3H1) Sequencing

OTC Deficiency
>> Biochemical Analysis
>> Mitochondrial DNA Analysis

PCSK1 Sequencing
>> DNA Analysis

PDSS1 Sequencing
>> Mitochondrial DNA Analysis

PDSS2 Sequencing
>> Mitochondrial DNA Analysis

Pearson Syndrome
>> Mitochondrial DNA Deletion Analysis

Pelizaeus-Merzbacher Disease (PMD)
>> DNA Analysis
>> FISH Analysis

Phenylalanine
>> Biochemical Analysis

Phenylketonuria
>> Biochemical Analysis
>> Mitochondrial DNA Analysis

Pheochromocytoma (PHEO) and Paraganglioma (PGL)-Associated Syndromes Panel
>> Succinate Dehydrogenase Complex Subunit B (SDHB) Sequencing
>> Succinate Dehydrogenase Complex Subunit C (SDHC) Sequencing
>> Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing

Personalized Medical Genomic Profile
>> Array Analysis

Phosphatidylinositol-4,5- Bisphoshate Phosphatase
>> Biochemical Analysis

PLOD1 Sequencing
>> DNA Analysis

PMS2 Sequencing
>> DNA Analysis

POMC Sequencing
>> DNA Analysis

PNP Deficiency
>> Biochemical Analysis

POLG1 Related Disorders - POLG1 Sequencing
>> Mitochondrial DNA Analysis

POLG2 Sequencing
>> Mitochondrial DNA Analysis

Polyols, Urinary
>> Biochemical Analysis

Pompe Disease
>> Biochemical Analysis

PORCN Sequencing
>> DNA Analysis

Potocki/Shaffer Syndrome (EXT2 Only)
>> FISH Analysis

Prader-Willi Syndrome (PWS)
>> DNA Analysis
>> FISH Analysis

Progressive Familial Intrahepatic Cholestasis 1 (PFIC1)
>> Mitochondrial DNA Analysis

Progressive Familial Intrahepatic Cholestasis 2 (PFIC2)
>> Mitochondrial DNA Analysis

Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)
>> Mitochondrial DNA Analysis

Prothrombin (Factor II)
>> DNA Analysis

PTEN-Related Disorders
>> PTEN Comprehensive
>> PTEN Sequencing only
>> PTEN Deletion/Duplication by MLPA

PTPN11 Sequencing
>> DNA Analysis

Purine Nucleoside Phosphorylase
>> Biochemical Analysis

Purine Profile, Urinary
>> Biochemical Analysis

PUS1 Sequencing
>> Mitochondrial DNA Analysis

Pyruvate Dehydrogenase Deficiency - PDHA1 Sequencing
>> Mitochondrial DNA Analysis

RAF1 Sequencing
>> DNA Analysis

Rett Syndrome
>> MECP2 Sequencing
>> MECP2 Deletion Analysis
>> CDKL5 Related: CDKL5/STK9 Sequencing
>> Congenital Variant: FOXG1 Sequencing

RhD Genotyping
>> DNA Analysis

Rickets-Alopecia Syndrome, VDR Sequencing
>> DNA Analysis

Rothmund-Thomson Syndrome (RTS)
>> DNA Analysis

RPS19 Sequencing
>> DNA Analysis

RRM2B Sequencing
>> Mitochondrial DNA Analysis

Rubinstein-Taybi Syndrome
>> FISH Analysis

RUNX1 Sequencing
>> DNA Analysis

RUNX2 Sequencing
>> DNA Analysis

Sanfilippo B Mucopolysaccharidosis
>> Biochemical Analysis

Schmid Metaphyseal Chondrodysplasia
>> DNA Analysis

SCO1 Sequencing
>> Mitochondrial DNA Analysis

SCO2 Sequencing
>> Mitochondrial DNA Analysis

Sialidase
>> Biochemical Analysis

Sialidosis
>> Biochemical Analysis

Sickle Cell Disease
>> DNA Analysis

Skin Fibroblast Culture
>> Biochemical Analysis

SLC25A3 (PHC) Sequencing
>> Mitochondrial DNA Analysis

SLC25A13 Sequencing
>> Mitochondrial DNA Analysis

SLC25A20 Sequencing
>> Mitochondrial DNA Analysis

SLC45A2 Sequencing
>> DNA Analysis

SLC9A6 Sequencing
>> DNA Analysis

Sly
>> Biochemical Analysis

Smith-Magenis Syndrome
>> FISH Analysis

SOS1 Sequencing
>> DNA Analysis

SOTOS Syndrome
>> FISH Analysis

Sphingomyelinase
>> Biochemical Analysis

Spinal Muscular Atrophy
>> DNA Analysis

Spinobulbar Muscular Atrophy
>> DNA Analysis

Spinocerebellar Ataxia Type 1 (SCA1)
>> DNA Analysis

Spinocerebellar Ataxia Type 10 (SCA10)
>> DNA Analysis

SRY
>> FISH Analysis

SRY Gene
>> DNA Analysis

Steroid Sulfatase
>> Biochemical Analysis

Steroid Sulfatase Deficiency
>> FISH Analysis

Succinate Dehydrogenase Complex Subunit A (SDHA) Sequencing
>> Mitochondrial DNA Analysis

Succinate Dehydrogenase Complex Subunit B (SDHB) Sequencing
>> Mitochondrial DNA Analysis

Succinate Dehydrogenase Complex Subunit C (SDHC) Sequencing
>> Mitochondrial DNA Analysis

Succinate Dehydrogenase Complex Subunit D (SDHD) Sequencing
>> Mitochondrial DNA Analysis

Succinylacetone Determination
>> Biochemical Analysis

SUCLA2 Sequencing
>> Mitochondrial DNA Analysis

SUCLG1 Sequencing
>> Mitochondrial Analysis

Sulfocysteine Determination, Urinary
>> Biochemical Analysis

SURF1 Sequencing
>> Mitochondrial DNA Analysis

Systemic Carnitine Deficiency - SLC22A5 Sequencing
>> Mitochondrial DNA Analysis

TAZ Sequencing
>> Mitochondrial DNA Analysis

Tay-Sachs Carrier Testing
>> Biochemical Analysis

Tay-Sachs Disease
>> Biochemical Analysis
>> DNA Analysis

Telomeres
>> FISH Analysis

Thrombophilia Panel
>> DNA Analysis

Thymidine Determination
>> Biochemical Analysis

Thymidine Kinase (TK2) Sequencing
>> Mitochondrial DNA Analysis

Thymidine Phosphorylase (TP), TYMP Sequencing
>> Mitochondrial DNA Analysis

TIMM8A Sequencing
>> Mitochondrial DNA Analysis

TINF2 Sequencing
>> DNA Analysis

TOMM20 Sequencing
>> Mitochondrial DNA Analysis

Trichorhinophalangeal Syndrome (TRPS1)
>> FISH Analysis

Trifunctional Protein Deficiency - HADHB Sequencing
>> Mitochondrial DNA Analysis

TSFM-Related Combined Oxidative Phosphorylation Deficiency - TSFM Sequencing
>> Mitochondrial DNA Analysis

TWINKLE/C10orf2 Sequencing
>> Mitochondrial DNA Analysis

TYR Sequencing
>> DNA Analysis

TYRP1 Sequencing
>> DNA Analysis

Tyrosine/Phenylalanine
>> Biochemical Analysis

Tyrosinemia Type 1
>> Mitochondrial DNA Analysis

U-Z

UPDG Deficiency
>> Biochemical Analysis

VDR Sequencing
>> DNA Analysis

Velocardiofacial Syndrome
>> FISH Analysis

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
>> Mitochondrial DNA Analysis

Von Hippel-Lindau Syndrome
>> VHL Comprehensive
>> VHL Sequencing only
>> VHL Deletion/Duplication by MLPA

WAGR/Aniridia Syndrome
>> FISH Analysis

Warfarin Sensitivity Genotyping
>> DNA Analysis

Whole Genome
>> Mitochondrial DNA Analysis

Williams Syndrome
>> FISH Analysis

Wilms Syndrome
>> FISH Analysis

Wolman Disease
>> Biochemical Analysis
>> LIPA Sequencing

Wolf-Hirschhorn Syndrome (4p-)
>> FISH Analysis

Xanthinuria
>> Biochemical Analysis

X-linked Ichthyosis
>> Biochemical Analysis
>> FISH Analysis

X-Linked Angelman-like Syndrome SLC9A6 Sequencing
>> DNA Analysis

X-Linked Ocular Albinism (XLOA)
>> DNA Analysis