Test Name & Code: • Test Name: ALPL Gene Deletion/Duplication Analysis • Test Code: 5649 Related Diseases & Genes: • “Hypophosphatasia, adult” (OMIM #: 146300) || Gene: ALPL (OMIM #: 171760) • “Hypophosphatasia, childhood” (OMIM #: 241510) • “Hypophosphatasia, infantile” (OMIM #: 241500) • Odontohypophosphatasia (OMIM #: 146300) Synonyms: • “ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE” •...

Test Name & Code: • Test Name: CYP27A1 Gene Deletion/Duplication Analysis • Test Code: 5648 Related Diseases & Genes: • CEREBROTENDINOUS XANTHOMATOSIS (OMIM #: 213700) || Gene: CYP27A1 (OMIM #: 606530) Synonyms: • CEREBRAL CHOLESTERINOSIS • CYP27 • STEROL 27-HYDROXYLASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

Test Name & Code: • Test Name: Alpha Thalassemia Deletion/Duplication Analysis • Test Code: 5571 Related Diseases & Genes: • Alpha Thalassemias (OMIM #: 604131) || Gene: HBA1 (OMIM #: 141800) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Test Name & Code: • Test Name: CYP21A2 Deletion/Duplication Analysis • Test Code: 4832 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815) • “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910) Synonyms: • “Cytochrome P450, Family 21, Subfamily A, Polypeptide...

Test Name & Code: • Test Name: AR Deletion/Duplication Analysis • Test Code: 4822 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar muscular atrophy...

Test Name & Code: • Test Name: GALT Deletion/Duplication Analysis • Test Code: 4780 Related Diseases & Genes: • Galactosemia (OMIM #: 230400) || Gene: GALT (OMIM #: 606999) Synonyms: • Galactose-1-Phosphate Uridylyltransferase Deficiency • Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

Test Name & Code: • Test Name: BRCA2 Deletion/Duplication Analysis • Test Code: 4688 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA2 (OMIM #: 600185) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Test Name & Code: • Test Name: BRCA1 Deletion/Duplication Analysis • Test Code: 4687 Related Diseases & Genes: • “Breast-ovarian cancer, familial, 1” (OMIM #: 604370) || Gene: BRCA1 (OMIM #: 113705) • “Breast-ovarian cancer, familial, 2” (OMIM #: 612555) Synonyms: • Breast Cancer Susceptibility Test • Familial Breast Cancer Test Details: • Methodology: MLPA...

Test Name & Code: • Test Name: Pseudoxanthoma Elasticum Gene Test • Test Code: 4684 Related Diseases & Genes: • Pseudoxanthoma elasticum (OMIM #: 264800) || Gene: ABCC6 (OMIM #: 603234) • “Pseudoxanthoma elasticum, forme fruste” (OMIM #: 177850) • “Arterial calcification, generalized, of infancy, 2” (OMIM #: 614473) Synonyms: • “ATP-BINDING CASSETTE, SUBFAMILY C,...

Test Name & Code: • Test Name: ANGELMAN Methylation Analysis • Test Code: 4664 Related Diseases & Genes: • Angelman syndrome (OMIM #: 105830) || Gene: UBE3A (OMIM #: 601623) Synonyms: • UBIQUITIN-PROTEIN LIGASE E3A • 15q11-q13 • UBE3A/D15S10 Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen...

Test Name & Code: • Test Name: PRADER-WILLI Methylation Analysis • Test Code: 4663 Related Diseases & Genes: • Prader-Willi syndrome (OMIM #: 176270) || Gene: SNRPN (OMIM #: 182279) Synonyms: • PWS • 15q11-q13 • SNRPN Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Test Name & Code: • Test Name: PAH Deletion/Duplication Analysis • Test Code: 4662 Related Diseases & Genes: • Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349) Synonyms: • PKU Genetic Analysis • Phenylalanine Hydroxylase Gene Deficiency • PAH Mutations Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen...

Test Name & Code: • Test Name: Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO) • Test Code: 4628 Related Diseases & Genes: • Kearns-Sayre Syndrome (KSS) (OMIM #: 530000) • PEARSON MARROW-PANCREAS SYNDROME (OMIM #: 557000) • Progressive external ophthalmoplegia (OMIM #: 157640) Synonyms: -none- Test Details: • Methodology: MLPA • Performed: Everyday • Reported:...

Test Name & Code: • Test Name: PROP1 Deletion/Duplication Analysis • Test Code: 4600 Related Diseases & Genes: • “Pituitary hormone deficiency, combined, 2” (OMIM #: 262600) || Gene: PROP1 (OMIM #: 601538) Synonyms: -none- Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Test Name & Code: • Test Name: NF1 Deletion/Duplication Analysis • Test Code: 4391 Related Diseases & Genes: • “NEUROFIBROMATOSIS, TYPE I” (OMIM #: 162200) || Gene: NF1 (OMIM #: 613113) Synonyms: • NF1 • NEUROFIBROMATOSIS, PERIPHERAL TYPE • VON RECKLINGHAUSEN DISEASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen...

Test Name & Code: • Test Name: 5 Alpha Reductase Deletion/Duplication Analysis • Test Code: 4389 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen...

Test Name & Code: • Test Name: TWIST1 Deletion/Duplication Analysis • Test Code: 4248 Related Diseases & Genes: • “Craniosynostosis, type 1” (OMIM #: 123100) || Gene: TWIST1 (OMIM #: 601622) • Robinow-Sorauf syndrome (OMIM #: 180750) • Saethre-Chotzen syndrome (OMIM #: 101400) • Saethre-Chotzen syndrome with eyelid anomalies (OMIM #: 101400) Synonyms: • TRANSCRIPTION...

Test Name & Code: • Test Name: PTEN Deletion/Duplication Analysis • Test Code: 4055 Related Diseases & Genes: • Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728) • Cowden syndrome 1 (OMIM #: 158350) • “Endometrial carcinoma, somatic” (OMIM #: 608089) • Lhermitte-Duclos syndrome (OMIM #: 158350) Synonyms: • PHOSPHATASE AND TENSIN...

Test Name & Code: • Test Name: Cystic Fibrosis (CFTR) Deletion Duplication Analysis • Test Code: 3647 Related Diseases & Genes: • Cystic fibrosis (OMIM #: 219700) || Gene: CFTR (OMIM #: 602421) Synonyms: • CF Mutations • CF Genetic Analysis • Cystic Fibrosis Transmembrane Conductance Regulator Test Details: • Methodology: MLPA • Performed: Everyday...

Test Name & Code: • Test Name: Silver-Russell 11p15 Hypomethylation • Test Code: 3626 Related Diseases & Genes: • Silver-Russell syndrome (OMIM #: 180860) || Gene: Location 11p15 (OMIM #: ) Synonyms: • RUSSELL-SILVER SYNDROME • SILVER-RUSSELL DWARFISM Test Details: • Methodology: MLPA; Methylation Sensitive Restriction • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Test Name & Code: • Test Name: DMD Carrier Test • Test Code: 3622 Related Diseases & Genes: • Duchenne muscular dystrophy (OMIM #: 310200) || Gene: DMD (OMIM #: 300377) • MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #: 300376) Synonyms: • Duchenne muscular dystrophy (DMD) • Dystrophin • Deletion Test Details: • Methodology: MLPA •...

Test Name & Code: • Test Name: MGMT Gene Methylation Analysis • Test Code: 3467 Related Diseases & Genes: • Response to temozolomide in low-grade gliomas || Gene: MGMT (OMIM #: 156569) • Prognostic significance in colorectal cancer Synonyms: • METHYLGUANINE-DNA METHYLTRANSFERASE Test Details: • Methodology: MLPA • Reported: 3 weeks Specimen Details: • Specimen...

Test Name & Code: • Test Name: RETT Syndrome MECP2 Deletion Analysis • Test Code: 3313 Related Diseases & Genes: • Rett syndrome, preserved speech variant (OMIM #: 312750) || Gene: MECP2 (OMIM #: 300005) • Rett syndrome (OMIM #: 312750) Synonyms: • MECP2 Deletion Analysis • methyl-CpG-binding protein-2 Test Details: • Methodology: MLPA •...

Test Name & Code: • Test Name: Limb-Girdle Deletion Analysis • Test Code: 3299 Related Diseases & Genes: • Muscular dystrophy, limb-girdle, type 2D (OMIM #: 608099) • Adhalinopathy, primary Synonyms: • SGCA • SGCB • SGCD • SGCG • FKRP Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 2-3 weeks Specimen Details:...

Test Name & Code: • Test Name: Beta-Thalassemias deletion/duplication analysis • Test Code: 3265 Related Diseases & Genes: • Beta Thalassemias (OMIM #: 613985) || Gene: HBB (OMIM #: 141900) Synonyms: • Thalassemia • Mediterranean Anemia Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood...