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ACHONDROPLASIA, HYPOCHONDROPLASIA (FGFR3): DNA sequence analysis of exons 8, 11, 12 and 13 of the fibroblast growth factor receptor 3 (FGFR3) gene associated with hypochondroplasia and achondroplasia.	81404
ADRENAL INSUFFICIENCY (TBX19):   DNA sequence analysis of the entire T box 19 (TBX19) gene associated with adrenal insufficiency.	81406
AGAMMAGLOBULINEMIA (BTK):   DNA sequence analysis of the entire BTK gene associated with Bruton’s agammaglobulinemia.	81406
ANDROGEN INSENSITIVITY SYNDROME (AR):   DNA sequence analysis of the entire androgen receptor gene associated with complete, partial and mild androgen insensitivity syndromes.	81406
ANGELMAN SYNDROME (SNRPN):  Methylation analysis of the SNRPN gene as well as microsatellite analysis is used to detect deletions and chromosome 15 uniparental disomy. Analysis is coordinated with a routine cytogenetic analysis for karyotype rearrangements as well as FISH analysis to detect chromosome 15 deletions.	81402
ANGELMAN SYNDROME (UBE3A):   DNA sequence analysis of the entire gene encoding Ubiquitin-protein ligase E3A (UBE3A) associated with Angelman Syndrome.	81406
AROMATASE DEFICIENCY (CYP19A1):   DNA sequence analysis of the entire gene encoding Cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1) associated with pseudohermaphroditism due to placental aromatase deficiency.	81405
BAMFORTH-LAZARUS SYNDROME (FOXE1/TTF2/FKHL15): Complete genomic DNA sequence analysis of the coding region of the forkhead box E1 (FOXE1 aka FKHL15, TTF2) gene. Mutations in this gene are associated with Bamforth-Lazarus syndrome also known to as hypothyroidism, athyroidal with spiky hair and cleft palate.	81404
BONE MARROW TRANSPLANTATION MONITORING (STR ANALYSIS): Fragment analysis of pre-, donor-, post- and lineage specific specimens for purposes of monitoring allogeneic transplant recipients. Cell separation processed by the Histocompatability and Immunogenetics Laboratory.	81265 81267 81268
CONGENTIAL ADRENAL HYPOPLASIA (NROB1/DAX1):   DNA sequence analysis of the entire gene encoding the nuclear receptor, subfamily 0, group B, member 1 (NR0B1, also known as DAX1) associated with X-linked adrenal hypoplasia congenita.	81404
CONGENITAL HYPOTHYROIDISM (PAX8):   DNA sequence analysis of the entire paired box 8 (PAX8) gene associated with congenital nongoitrous hypothyroidism.	81406
DEAFNESS, AUTOSOMAL RECESSIVE Type 1A (GJB2/CX26): DNA sequence analysis of the entire coding region of the GJB2/CX26 gene which is associated with nonsyndromic hearing loss and deafness type DFNB1A.	81404
DEAFNESS, AUTOSOMAL RECESSIVE Type 1A (GJB6/CX30): Deletion/duplication analysis of the GJB6/CX30 gene which is associated with nonsyndromic hearing loss and deafness type DFNB1A.	81405
DYSTONIA 1 (DYT1/TORSIN-A): Genomic DNA sequence analysis of the codons 276-332 including the 302 GAG triplet deletion site in exon 5 of the DYT1 gene. Also known as Torsin-A, DYT1 is is associated with autosomal dominant dystonia (early-onset torsion dystonia).	81403
DYSTROPHINOPATHIES (DMD, BMD, DCM): Deletion/duplication analysis of the DMD gene associated with Duchenne musical dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD associated dilated cardiomyopathy (DCM).	81407
FRAGILE X SYNDROME (FMR1):  Diagnostic or carrier testing is performed for the CGG repeat expansion in the FMR-1 gene.	81243
GLUCOCORTICOID DEFICIENCY (ACTH/MC2R):   DNA sequence analysis of the entire gene encoding the ACTH receptor (ACTHR, or melanocortin-2 receptor, MC2R) associated with glucocorticoid deficiency.	81404
GONADAL DYSGENESIS (SRY/TDF):   DNA sequence analysis of the entire gene (including the promoter region) encoding the testis determining factor (TDF, also know as SRY) associated with sex reversal with gonadal dysgenesis.	81404
HEREDITARY HEMOCHROMATOSIS (HFE): Complete DNA sequence analysis of the entire HFE gene associated with hereditary hemochormatosis including the C282Y and H63D mutations.	81405
HIRSCHPRUNGS DISEASE (RET):   Complete DNA sequence analysis of the RET gene responsible for Hirschprungs Disease and rare cases of MEN types IIA, IIB, and familial medullary carcinoma of the thyroid.	81406
HOMOCYSTEINURIA (MTHFR): Complete DNA sequence analysis of the coding region of the MTHFR gene which is associated with homocysteinuria/homocysteinemia.	81406
HYDROXYSTEROID DEHYDROGENASE (HSD17B3):   DNA sequence analysis of the entire gene encoding 17-@beta hydroxysteroid dehydrogenase III (HSD17B3) associated with pseudohermaphroditism.	81406
HYPOGONADOTROPIC HYPOGONADSIM, IDIOPATHIC (TACR3/NK3R): DNA sequence analysis of the entire gene encoding TACR3 which is associated with idiopathic hypogonadotropic hypogonadism.	81404
HUNTINGTON DISEASE (Huntingtin, IT-15):  DNA testing for the CAG trinucleotide repeat expansion is performed. Pretest evaluation and counseling is available at the University of South Florida and is required for presymptomatic patients.	81401
LUTENIZING HORMONE, BETA POLYPEPTIDE (LHB/CGB4): Complete genomic DNA sequence analysis of the coding region of the lutenizing hormone, beta polypeptide (LHB aka CGB4). Mutations in this gene are associated with hypogonadism and infertility.	81404
LUTENIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR (LHCGR): Complete DNA sequence analysis of the entire LHCGR gene associated with percocious puberty, psudeohermaphroditism and Leydig cell hypoplasia with hypergondadotropic hypogonadism.	81403
MACHINIS SYNDROME, SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS AND SMALL SELLA TURCICA (LHX4):   DNA sequence analysis of the entire LIM homeobox protein 4 (LHX4) gene associated with Machinis syndrome, characterized by short stature, pituitary and cerebellar defects, and small sella turcica.	81405
MANNOSE BINDING LECTIN (MBL2): DNA sequence analysis and haplotyping of the promotor region and exon 1 of MBL2, the gene associated with innate immune defense.	81404
MATERNAL CELL CONTAMINATION (MCC Testing):  Microsatellite analysis for the purpose of identifying maternal cell contamination within a cultured specimen.	81403
MELANOCORTIN-4 RECEPTOR GENE (MC4R):   DNA sequence analysis of the entire melanocortin-4 receptor (MC4R) gene associated with an autosomal dominant form of inherited obesity.	81404
MULTIPLE ENDOCRINE NEOPLASIA (RET):   Partial (exons 10, 11 and 16) or complete DNA sequence analysis of the RET gene responsible for MEN types IIA, IIB, and familial medullary carcinoma of the thyroid.	81404
MYOTUBULAR MYOPATHY (MTM1):   DNA sequence analysis of the entire MTM1 gene responsible for the X-linked form of this disorder.	81406
NEURONAL CEROID LIPOFUSCINOSIS (PPT1):   DNA sequence analysis of the entire gene encoding palmitoyl-protein thioesterase 1 (PPT1) associated with one form of neuronal ceroid lipofuscinosis.	81405
NEURONAL CEROID LIPOFUSCINOSIS (TPP1): Complete DNA sequence analysis of the entire tripeptidyl peptidase I (TPP1) gene associated with ceroid lipofuscinosis.	81406
PARENTAGE/ZYGOSITY TESTING:   Paternity, maternity and zygosity testing is performed using a panel of 15 polymorphic microsatellite loci.	81403
PITUITARY HORMONE DEFICIENCY (PROP1):   DNA sequence analysis of the entire prophet of PIT1 (PROP1) gene associated with familial pituitary hormone deficiency.	81404
PITUITARY HORMONE DEFICIENCY (POU1F1/PIT1):   DNA sequence analysis of the entire gene encoding the POU domain, class 1, transcription factor 1 (POU1F1, also known as PIT1) associated with familial pituitary hormone deficiency.	81405
PITUITARY HORMONE DEFICIENCY, SEPTOOPTIC DYSPLASIA (HESX1): DNA sequence analysis of the entire homeobox gene HESX1 associated with pituitary hypoplasia and septo-optic dysplasia.	81404
PITUITARY DWARFISM II, LARON SYNDROME  (GHR):   DNA sequence analysis of the entire growth hormone receptor (GHR) gene associated with short stature, Laron dwarfism, and growth hormone insensitivity.	81405
PITUITARY DWARFISM III (LHX3):   DNA sequence analysis of exon 1,2,3 of the LIM homeobox protein 3 (LHX3) gene associated with combined pituitary hormone deficiency.	81404
PRADER-WILLI SYNDROME (SNRPN):  Methylation analysis of the SNRPN gene as well as microsatellite analysis is used to detect deletions and chromosome 15 uniparental disomy. Analysis is coordinated with a routine cytogenetic analysis for karyotype rearrangements as well as FISH analysis to detect chromosome 15 deletions.	81402 81331
PTEN HAMARTOMA TUMOR / MACROCEPHALY / AUTISM SYNDROME / BANNANYAN-RILEY-RUVALCABA SYNDROME / COWDEN SYNDROME (PTEN): DNA sequence analysis of the entire PTEN gene associated with PTEN related diseases and syndromes including Macrocephaly, Autism Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Cowden Disease, Lhermitte-Duclos, Proteus Syndrome and Proteus-like Syndrome.	81405
RETT SYNDROME (MECP2):   DNA sequence analysis of the entire gene encoding methyl-CpG-Binding Protein 2 (MECP2) responsible for Rett Syndrome.	81302
RIEGER SYNDROME TYPE 1, IRIDOGONIODYSGENESIS II (PITX2):   DNA sequence analysis of the entire gene encoding paired-like homeodomain transcription factor 2 (PITX2) associated with Riger Syndreome Type 1 and Iridogoniodysgenesis Type II.	81405
ROGERS SYNDROME (SLC19A2): DNA sequence analysis of the entire SLC19A2 gene associated with thiamine-responsive anemia / myelodysplasia (also known as Rogers Syndrome).	81405
RUSSEL SILVER SYNDROME (UPD 7 Analysis): PD analysis of chromosomes 7 which is associated with Russel Silver Syndrome.	81402
SPINAL MUSCULAR ATROPHY (SMA): Deletion / duplication analysis of exons 7 and 8 of the SMN1 and 2 genes associated with spinal muscular atrophy types I, II, III, IV.	81405
STEROID 5-ALPHA REDUCTASE DEFICIENCY (SRD5A2): DNA sequence analysis of the entire gene encoding Steroid 5-Alpha-Reductase 2, (SRD5A2) which is associated with pseudovaginal perineoscrotal hypospadias (male pseudohermaphroditism).	81405
THYROID HORMONE RESISTANCE (THRB, ERBA2):   DNA sequence analysis of the entire gene encoding thyroid hormone receptor, beta (THRB, also known as ERBA2) associated with thyroid hormone resistance.	81405
THROMBOSIS (FACTOR V LEIDEN R506Q MUTATION):  DNA mutational analysis for the Factor V mutation [R506Q] associated with thrombosis.	81241
THROMBOSIS, HYPERHOMOCYSTINURIA (MTHFR C677T, A1298C MUTATIONS):  DNA mutational analysis for the MTHFR C677T and A1298C mutations associated with hyperhomocystinuria, cardiovascular disease, pre-eclampsia, and thrombosis.	81291
THROMBOSIS (FACTOR II G20210A MUTATION):  DNA mutational analysis for the factor II (also known as Prothrombin) G20210A mutation associated with thrombosis.	81240
UNIPARENTAL DISOMY ANALYSIS: UPD analysis of chromosomes 3, 6, 7, 14, 15, 18.
VON WILLEBRAND DISEASE (VWF Exon 28):   DNA sequence analysis of exon 28 of the VWF gene associated with proteolysis susceptibility.	81405

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