The University of Chicago Genetic Services Laboratories

Transcription

1 Aceruloplasminemia testing CP sequencing Aceruloplasminemia CP deletion/duplication Albinism testing Albinism Sequencing Panel (20 genes Albinism Deletion/Duplication Panel (20 genes Alstrom syndrome testing ALMS1 sequencing weeks $1,700 Alstrom syndrome ALMS1 deletion/duplication Alternating Hemiplegia of Childhood testing ATP1A3 sequencing Alternating hemiplegia of childhood weeks $2,025 Angelman syndrome MS-MLPA (detects methylation and deletions in 15q11-13) weeks $525 UPD 15 testing (requires samples from both parents also) Angelman syndrome weeks $540 Imprinting center deletion analysis weeks $450 UBE3A sequencing weeks $1,500 UBE3A deletion/duplication SLC9A6 sequencing weeks $1,500 X-linked Angelman-like syndrome SLC9A6 deletion/duplication Angelman Syndrome Tier 2 Panel ( MECP2,TCF4, SLC9A6 and UBE3A sequencing and deletion/duplication) Rett/Angelman Syndrome Sequencing Panel (21 genes Rett/Angelman Syndrome Deletion/Duplication Panel (19 genes deletion/duplication) Aniridia testing PAX6 sequencing PAX6 deletion/duplication Ataxia Ataxia Exome Panel (331 genes)** Baraitser Winter syndrome testing Baraitser Winter syndrome sequencing panel (ACTB and ACTG1 sequencing) Baraitser Winter syndrome deletion/duplication panel (ACTB and ACTG1 del/dup) Beckwith-Wiedemann syndrome/image syndrome testing weeks $4, weeks $4, weeks $1, weeks $4, weeks $2, weeks $1,545 CDKN1C sequencing Beckwith-Wiedemann syndrome weeks $840 Bernard-Soulier syndrome testing GPIbβ sequencing weeks $400 Bernard-Soulier syndrome GPIbβ deletion/duplication weeks $1,000 Brain Malformation testing Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel (17 genes sequencing) weeks $3,975 Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel (17 genes TSEN54 sequencing Cerebellar/Pontocerebellar Hypoplasia (PCH) TSEN54 deletion/duplication CASK sequencing weeks $2,040 CASK deletion/duplication OPHN1 sequencing weeks $1,800 OPHN1 deletion/duplication Cerebral Cortical Malformations Sequencing Panel (46 genes sequencing )** weeks $3,900 Cerebral Cortical Malformations Cerebral Cortical Malformations Deletion/Duplication Panel (25 genes Holoprosencephaly Sequencing Panel (9 genes Holoprosencephaly Deletion/Duplication Panel (9 genes L1CAM sequencing weeks $1,980 L1 syndrome L1CAM deletion/duplication Autosomal Recessive Non-Syndromic Hydrocephalus Sequencing Panel (CCDC88C and MPDZ sequencing) Autosomal Recessive Non-Syndromic Hydrocephalus Deletion/Duplication Panel (CCDCC8C and MPDZ Holoprosencephaly Hydrocephalus weeks $2, weeks $1, /2015

2 Comprehensive Lissencephaly panel (26 genes sequencing and ** weeks $6,000 Cobblestone Lissencephaly Sequencing Panel (18 genes sequencing analysis)** weeks $3,975 Cobblestone Lissencephaly Deletion/Duplication Panel (8 genes DCX (XLIS) sequencing weeks $660 DCX deletion/duplication Lissencephaly PAFAH1B1 (LIS1) sequencing PAFAH1B1 (LIS1) deletion/duplication TUBA1A sequencing weeks $900 TUBA1A deletion/duplication ARX sequencing weeks $900 ARX deletion/duplication OPHN1 sequencing weeks $1,800 OPHN1 deletion/duplication Polymicrogyria Sequencing Panel (15 genes weeks $3,700 Polymicrogyria Deletion/Duplication Panel (11 genes GPR56 sequencing weeks $1,200 GPR56 deletion/duplication Polymicrogyria OCLN sequencing (exons 2-5) weeks $875 OCLN deletion/duplication (exons 2-5) TUBB2B sequencing TUBB2B deletion/duplication TUBB3 sequencing TUBB3 deletion/duplication CHARGE syndrome testing CHD7 sequencing weeks $2,400 CHARGE syndrome CHD7 deletion/duplication CHILD syndrome testing NSDHL sequencing CHILD syndrome NSDHL deletion/duplication CHIME syndrome testing PIGL sequencing CHIME syndrome PIGL deletion/duplication Chondrodysplasia punctata testing ARSE sequencing weeks $900 X-linked recessive (CDPX1) ARSE deletion/duplication EBP sequencing weeks $540 X-linked dominant (CDPX2) EBP deletion/duplication Tier 1: PEX7 sequencing Rhizomelic Chondrodysplasia Punctata weeks $1,200 Tier 2: GNPAT and AGPS sequencing Series weeks $2,400 Rhizomelic Chondrodysplasia Punctata Sequencing Panel (PEX7, GNPAT and AGPS sequencing) weeks $2,650 Ciliopathy testing Bardet-Biedl Syndrome Sequencing Panel (16 genes Bardet-Biedl Syndrome Deletion/Duplication Panel (16 genes Joubert/Meckel Gruber Syndrome Sequencing Panel (26 genes Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel (26 genes Meckel Gruber Syndrome Sequencing Panel (11 genes Meckel Gruber Syndrome Deletion/Duplication Panel (11 genes deletion/duplication) Nephronophthisis Sequencing Panel (13 genes Nephronophthisis Deletion/Duplication Panel (13 genes Coffin-Siris syndrome testing Bardet-Biedl syndrome Joubert syndrome and Meckel Gruber syndrome Meckel Gruber syndrome Nephronophthisis Coffin-Siris Syndrome Sequencing Panel (11 genes Coffin-Siris Syndrome Deletion/Duplication Panel (6 genes deletion/duplication testing) weeks $3, weeks $3, weeks $2, weeks $2, weeks $3, /2015

3 SLC25A1 sequencing Congenital heart defects (isolated) testing Combined D-2 and L-2-Hydroxyglutaric aciduria testing weeks $1,675 NKX2.5 sequencing weeks $430 Isolated congenital heart defects NKX2.5 deletion/duplication Congenital Muscle Disease testing Congenital Myopathy Sequencing Panel (19 genes Congenital Myopathy Deletion/Duplication Panel (17 genes Congenital Muscular Dystrophy Sequencing Panel (24 genes Congenital Muscular Dystrophy Deletion/Duplication Panel (23 genes Congenital Myopathy with Prominent Contractures Sequencing Panel (11 genes Congenital Myopathy with Prominent Contractures Deletion/Duplication Panel (11 genes Limb Girdle Muscular Dystrophy Sequencing Panel (31 genes Limb Girdle Muscular Dystrophy Del/Dup Panel (25 genes Congenital Myasthenic Syndrome Sequencing Panel (18 genes Congenital Myasthenic Syndrome Deletion/Duplication Panel (13 genes deletion/duplication analysis) weeks $3, weeks $3, weeks $3,600 BIN1 sequencing weeks $1,440 BIN1 deletion/duplication Autosomal recessive centronuclear RYR1 sequencing myopathy weeks $2,200 RYR1 deletion/duplication weeks $1,000 DNM2 sequencing Autosomal dominant centronuclear weeks $1,560 DNM2 deletion/duplication myopathy, CMT MTM1 sequencing weeks $1,200 X-linked myotubular myopathy MTM1 deletion/duplication Cornelia de Lange syndrome testing Tier 1: NIPBL sequencing & deletion/duplication weeks $2,000 Tier 2: SMC1A sequencing & deletion/duplication Cornelia de Lange syndrome series weeks $1,500 Tier 3: SMC3, RAD21,HDAC8 sequencing & deletion/duplication weeks $1,500 NIPBL sequencing weeks $2,100 NIPBL deletion/duplication SMC1A sequencing weeks $1,500 SMC1A deletion/duplication Cornelia de Lange syndrome Tier 3: SMC3,RAD21, HDAC8 sequencing weeks $2,900 Tier 3: SMC3, RAD21, HDAC8 deletion/duplication weeks $1,545 Cornelia de Lange PLUS Sequencing Panel (21 genes sequencing) Craniofacial testing Craniofacial Sequencing Panel (21 genes Craniofacial Deletion/Duplication Panel (21 genes Facial Dysostosis Sequencing Panel (17 genes Facial Dysostosis Sequencing Panel (8 genes Custom mutation analysis (requires approval by UCGS Lab staff) Sequencing change for first family member Sequencing change for additional family members Deletion/duplication analysis by real-time q-pcr for first family member Deletion/duplication analysis by real-time q-pcr for additional family member D-2-hydroxyglutaric aciduria testing weeks $4, weeks $ weeks $ weeks $ weeks $450 D-2-Hydroxyglutaric Aciduria Sequencing Panel (sequencing of D2HGDH and IDH2 sequencing) weeks $2,025 Distal arthrogryposes testing Distal Arthrogryposes Sequencing Panel (10 genes Distal Arthrogryposes Deletion/Duplication Panel (9 genes deletion/duplication) Donnai-Barrow syndrome testing weeks $3,200 LRP2 sequencing Donnai-Barrow syndrome LRP2 deletion/duplication Epilepsy testing Early Infantile Epileptic Encephalopathy Panel (30 genes sequencing and 21 genes del/dup)** Infantile and Childhood Epilepsy Panel (94 genes, sequencing only)** ARX sequencing ARX deletion/duplication STXBP1 sequencing STXBP1 deletion/duplication SLC25A22 sequencing SLC25A22 deletion/duplication SPTAN1 sequencing SPTAN1 deletion/duplication PCDH19 sequencing PCDH19 deletion/duplication weeks $4, weeks $5, weeks $ weeks $1, weeks $2, weeks $1, weeks $1, /2015

4 Exome Sequencing Exome Sequencing (Proband only)** weeks $4,800 Exome Sequencing (Trio)** 81415, weeks $6,500 Exome Select weeks $3,000 Fanconi-Bickel syndrome testing SLC2A2 sequencing Fanconi-Bickel syndrome SLC2A2 deletion/duplication Floating Harbor syndrome testing SRCAP sequencing weeks $2,550 Floating Harbor syndrome SRCAP deletion/duplication Glucose transporter type 1 deficiency testing SLC2A1 sequencing Glucose transporter type 1 deficiency SLC2A1 deletion/duplication Goldberg-Shprintzen megacolon syndrome testing KIAA1279 sequencing Goldberg-Shprintzen megacolon KIAA1279 deletion/duplication Hearing loss testing GJB2 sequencing (Connexin 26) weeks $450 Hearing loss GJB2 deletion/duplication weeks $1,000 Testing for a known GJB2 mutation in additional family member by sequence analysis weeks $390 Hereditary Cancer testing Familial BRCA1 mutation weeks $415 Familial BRCA2 mutation Hereditary Breast and Ovarian Cancer weeks $415 3 Ashkenazi BRCA1 and BRCA2 mutations weeks $475 Tier 1: MDS/AL panel (10 genes sequencing, 8 genes del/dup)** Tier 2: MDS/AL panel (sequencing and del/dup of 20 genes)** Tier 2: Familial Myelodysplastic Syndrome / Acute Leukemia Panel (sequencing and del/dup of 14 genes)** Tier 1: Hereditary Lymphoma Panel (8 genes sequencing and del/dup)** Hereditary Lymphoma Series Tier 2: Hereditary Lymphoma Panel (14 genes sequencing and del/dup)** Tier 1: Hereditary Lymphoma Panel (8 genes sequencing and del/dup)** Tier 2: Hereditary Lymphoma Panel (14 genes sequencing and del/dup)** Diamond-Blackfan Anemia Sequencing panel (8 genes, sequencing only)** Diamond-Blackfan Anemia Deletion/Duplication panel (8 genes, del/dup only) Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel (10 genes, sequencing and del/dup)** Telomere Biology Disorder/Dyskeratosis Congenita Sequencing Panel (10 genes, sequencing only)** Dyskeratosis Congenita Deletion/Duplication Panel (10 genes, del/dup only) Fanconi Anemia Sequencing Panel (17 genes, sequencing only)** Fanconi Anemia Deletion/Duplication Panel (17 genes, del/dup only) Hereditary Melanoma Sequencing panel (8 genes, sequencing only)** Hereditary Melanoma Deletion/Duplication panel (8 genes, del/dup only) weeks $3, weeks $2, weeks $3, weeks $2, weeks $3, weeks $2, weeks $3, weeks $2, weeks $3, weeks $1, weeks $3, weeks $3, weeks $1, weeks $3, weeks $2, weeks $3,200 Hereditary Gastric Cancer Panel (20 genes sequencing and del/dup)** weeks $4,000 Comprehensive Bone Marrow Failure Panel (49 genes sequencing, 30 genes del/dup)** Inherited Bone Marrow Failure Sequencing Panel (49 genes, sequencing only)** Inherited Bone Marrow Failure Deletion/Duplication Panel (30 genes, del/dup only) Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Series Tier 1: Familial Myelodysplastic Syndrome / Acute Leukemia Panel (10 genes sequencing, 8 genes del/dup) ** Hereditary Pheochromocytoma and Paraganglioma Panel (14 genes sequencing and del/dup)** Inherited Bone Marrow Failure Disorderes weeks $3, weeks $6, weeks $4, weeks $2,500 SCG5/GREM1 targeted duplication testing (founder mutation) Hereditary mixed polyposis syndrome weeks $390 Severe Congenital Neutropenia Sequencing Panel (7 genes, sequencing only)** weeks $3,200 Severe Congenital Neutropenia Deletion/Duplication Panel (7 genes, del/dup only) weeks $1,545 SMARCA4 sequencing Rhabdoid Tumor Predisposition weeks $2,200 SMARCA4 deletion/duplication Syndrome Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum SLC12A6 sequencing Hereditary Motor and Sensory SLC12A6 deletion/duplication Neuropathy with ACC Hyperinsulinism, Congenital testing Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism (ABCC8, GCK, KCNJ11 sequencing, ABCC8 gene del/dup) Congenital Hyperinsulinism Sequencing Panel (10 Familial hyperinsulinism genes sequencing) Comprehensive Congenital Hyperinsulinism Panel (10 genes sequencing, 9 genes del/dup) Hypoinsulinemic Hypoglycemia with Hemihypertrophy testing days $3, weeks $1, weeks $3,000 AKT2 sequencing Hypoinsulinemic Hypoglycemia with AKT2 deletion/duplication Hemihypertrophy Intellectual Disability (ID) testing Autosomal Recessive Non-Specific ID Sequencing Panel (51 genes, sequencing only)** X-Linked Non-Specific ID Sequencing Panel (77 genes, sequencing only)** Comprehensive Non-Specific ID Sequencing Panel (170 genes, sequencing only)** weeks $4, , weeks $5, /2015

5 IPEX syndrome testing FOXP3 sequencing IPEX syndrome FOXP3 deletion/duplication Kabuki syndrome testing KMT2D (MLL2) sequencing weeks $2,900 KMT2D (MLL2) deletion/duplication weeks $1,000 Kabuki syndrome KDM6A sequencing weeks $2,400 KDM6A deletion/duplication L-2-hydroxyglutaric aciduria testing L2HGDH sequencing Lipodystrophy testing Comprehensive Lipodystrophy Sequencing Panel (11 genes Comprehensive Lipodystrophy Deletion/Duplication Panel (11 genes del/dup) Congenital Generalized Lipodystrophy Sequencing panel (4 genes Congenital Generalized Lipodystrophy Deletion/Duplication panel (4 genes del/dup) Partial Lipodystrophy Sequencing Panel (7 genes Partial Lipodystrophy Deletion/Duplication Panel (7 genes del/dup) Laminopathy testing weeks $1, weeks $2, weeks $1, weeks $3,000 LMNA sequencing (Lamin A/C) Laminopathies LMNA deletion/duplication Macrocephaly testing Macrocephaly Sequencing Panel (15 genes weeks $3,300 Macrocephaly Deletion/Duplication Panel (15 genes NSD1 sequencing weeks $1,990 Sotos syndrome NSD1 deletion/duplication EZH2 sequencing weeks $1,500 Weaver syndrome EZH2 deletion/duplication NFIX sequencing Sotos-like syndrome weeks $960 MCT8 testing: (NOTE: 3-10cc of blood in a red top tube AND 3-10cc of blood in a purple top EDTA tube) Thyroid testing only 84436, 84481, 84443, weeks $350 Allan-Herndon-Dudley syndrome/mct8 - SLC16A2 (MCT8) sequencing (performed after related thyroid hormone cell transporter weeks $1,200 abnormal thyroid testing) deficiency SLC16A2 (MCT8) deletion/duplication Menkes disease testing ATP7A sequencing weeks $1,800 Menkes disease ATP7A deletion/duplication Microcephalic Osteodysplastic Primordial Dwarfism Seckel Syndrome Sequencing Panel (7 genes Seckel Syndrome Deletion/Duplication Panel (7 genes Meier-Gorlin Syndrome Sequencing Panel (5 genes Meier-Gorlin Syndrome Deletion/Duplication Panel (5 genes Comprehensive Primordial Dwarfism Sequencing Panel (16 genes Comprehensive Primordial Dwarfism Deletion/Duplication Panel (14 genes deletion/duplication analysis) weeks $4,500 PCNT sequencing weeks $2,650 MOPDII/Seckel Syndrome PCNT deletion/duplication Microcephaly testing Microcephaly Sequencing Panel (56 genes) weeks $4,000 Tier 1: ASPM sequencing & deletion/duplication** weeks $1,500 Tier 2: Autosomal Recessive Primary Microcephaly Tier 2 panel (sequencing of 18 genes, and del/dup of 16 Autosomal Recessive Primary Microcephaly Series** weeks $3,500 genes)** ASPM sequencing weeks $2,100 ASPM deletion/duplication Autosomal Recessive Primary Microcephaly Tier 2 Sequencing Panel (18 genes Autosomal Recessive Primary Microcephaly Tier 2 Del/Dup Panel ( 16 genes deletion/duplication analysis) weeks $3,400 IER3IP1 sequencing Microcephaly, Epilepsy and Diabetes weeks $2,200 IER3IP1 deletion/duplication Syndrome NDE1 sequencing NDE1 deletion/duplication PNKP sequencing weeks $1,200 PNKP deletion/duplication STAMBP sequencing Microcephaly-Capillary Malformation STAMBP deletion/duplication Syndrome WDR62 sequencing weeks $2,400 WDR62 deletion/duplication Mitchell-Riley syndrome testing RFX6 sequencing Mitchell-Riley syndrome RFX6 deletion/duplication Mowat Wilson syndrome testing ZEB2 sequencing weeks $1,675 Mowat-Wilson syndrome ZEB2 deletion/duplication Neonatal Diabetes Mellitus, Maturity-Onset Diabetes of the Young and Monogenic Obesity testing Comprehensive Neonatal Diabetes Mutation Analysis (6q24 MS-MLPA and 8 genes seq) weeks $3,000 6q24 Methylation-Specific MLPA Transient neonatal diabetes weeks $600 Neonatal Diabetes Mellitus (NDM) Sequencing Panel (11 genes sequencing) weeks $2,500 Neonatal Diabetes Mellitus (NDM) Deletion/Duplication Panel (6 genes deletion/duplication) Neonatal Diabetes/MODY Sequencing Panel (27 genes, sequencing only) weeks $3, /2015

6 MODY Panel (10 genes sequencing and del/dup - plus analysis of 3 additional research genes if consent is signed) weeks $3,800 GCK sequencing weeks $850 MODY type 2 GCK deletion/duplication GLIS3 sequencing weeks $2,200 NDM with Congenital Hypothyroidism GLIS3 deletion/duplication KCNJ11 sequencing weeks $400 Neonatal diabetes KCNJ11 deletion/duplication weeks $1,000 NEUROG3 sequencing weeks $2,200 NDM with Severe Malabsorptive Diarrhea NEUROG3 deletion/duplication Bardet-Biedl Syndrome Sequencing Panel (16 genes weeks $3,300 Obesity Sequencing Panel (29 genes Monogenic Obesity weeks $3,300 Neurodegeneration with brain iron accumulation (NBIA) testing NBIA Sequencing Panel (9 genes NBIA Deletion/Duplication Panel (9 genes weeks $3,800 FTL sequencing weeks $550 Neuroferritinopathy FTL deletion/duplication PANK2 sequencing weeks $900 PKAN/Hallervorden-Spatz syndrome PANK2 deletion/duplication PLA2G6 sequencing weeks $1,500 Infantile neuroaxonal dystrophy PLA2G6 deletion/duplication Neuronal Ceroid- Lipofuscinoses testing Neuronal Ceroid-Lipofuscinoses Panel (8 genes sequencing and deletion/duplication) Nicolaides-Baraitser syndrome testing weeks $4,400 SMARCA2 sequencing weeks $2,200 Nicolaides-Baraitser syndrome SMARCA2 deletion/duplication Oculodentodigital dysplasia testing GJA1 sequencing Oral-facial-digital syndrome testing weeks $540 OFD1 sequencing weeks $1,700 oral-facial-digital syndrome OFD1 deletion/duplication Pancreatic Agenesis PDX1 sequencing weeks $2,200 Pancreatic Agenesis PDX1 deletion/duplication GATA6 sequencing Pancreatic Agenesis and Congenital weeks $2,200 GATA6 deletion/duplication Heart Defects PTF1A sequencing weeks $2,200 Pancreatic and Cerebellar Agenesis PTF1A deletion/duplication Pigmented hypertrichotic dermatosis with insulin-dependent diabetes mellitus testing SLC29A3 sequencing SLC29A3 deletion/duplication Pitt-Hopkins syndrome testing weeks $2,200 TCF4 sequencing weeks $1,500 Pitt-Hopkins syndrome TCF4 deletion/duplication Prader-Willi syndrome testing Methylation Specific MLPA UPD15 (requires samples from both parents also) Imprinting center deletion analysis MAGEL2 sequencing Rett/Atypical Rett syndrome testing weeks $ weeks $ weeks $ weeks $1,575 Rett/Atypical Rett Syndrome Panel (MECP2, CDKL5, MEF2C and FOXG1 sequencing and deletion/duplication)** weeks $4,400 Rett/Angelman Syndrome Sequencing Panel (21 genes weeks $4,400 Rett/Angelman Syndrome Deletion/Duplication Panel (19 genes deletion/duplication) MECP2 sequencing weeks $900 Rett syndrome MECP2 deletion/duplication weeks $1,000 CDKL5 sequencing weeks $2,025 CDKL5 deletion/duplication FOXG1 sequencing weeks $550 Rett syndrome, congenital variant FOXG1 deletion/duplication weeks $1,000 MEF2C sequencing weeks $1,500 MEF2C deletion/duplication Roberts syndrome testing ESCO2 sequencing ESCO2 deletion/duplication Robinow syndrome testing ROR2 sequencing Autosomal Recessive Robinow weeks $1,500 ROR2 deletion/duplication syndrome, brachydactyly type B1 WNT5A sequencing Autosomal Dominant Robinow WNT5A deletion/duplication syndrome Rubinstein-Taybi syndrome testing CREBBP sequencing CREBBP deletion/duplication EP300 sequencing EP300 deletion/duplication weeks $2, weeks $2, /2015

7 Schinzel-Giedion syndrome testing SETBP1 sequencing SETBP1 deletion/duplication SHORT syndrome testing PIK3R1 sequencing Thiamine Responsive Megaloblastic Anemia syndrome testing SLC19A2 sequencing SLC19A2 deletion/duplication Type A Insulin Resistant Diabetes with Acanthosis Nigricans weeks $1, weeks $1, weeks $1,600 INSR sequencing Type A Insulin Resistant Diabetes with INSR deletion/duplication Acanthosis Nigricans UGT1A1 testing UGT1A1 genotyping for Gilbert syndrome UGT1A1 genotyping for irinotecan dosing weeks $ week $300 UGT1A1 sequencing weeks $875 Crigler-Najjar syndrome UGT1A1 deletion/duplication UPD testing: (NOTE: 3-10cc of blood in an EDTA/purple top tube from patient AND BOTH parents) UPD6 testing Transient neonatal diabetes weeks $540 UPD7 testing Russell-Silver syndrome weeks $540 UPD14 testing UPD weeks $540 UPD15 testing Angelman and Prader-Willi syndromes weeks $540 Warburg Micro syndrome testing Warburg Micro Syndrome Sequencing Panel (RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 Warburg Micro Syndrome Deletion/Duplication Panel (RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 del/dup) Wiedemann-Steiner syndrome testing weeks $3,400 KMT2A (MLL) sequencing weeks $2,900 Wiedemann-Steiner syndrome KMT2A (MLL) deletion/duplication Wilson Disease testing ATP7B sequencing weeks $1,800 Wilson disease ATP7B deletion/duplication Wolcott-Rallison syndrome EIF2AK3 sequencing Wolcott-Rallison syndrome EIF2AK3 deletion/duplication Wolfram syndrome testing Wolfram syndrome sequencing Panel (WFS1 and CISD2 sequencing) Wolfram syndrome Del/Dup Panel ( WFS1 and CISD2 deletion/duplication ) Woodhouse-Sakati syndrome testing DCAF17 sequencing DCAF17 deletion/duplication Deletion/Duplication analysis by array-cgh Deletion/duplication analysis by array-cgh (one gene) Deletion/duplication analysis by array-cgh (two or more genes)* Targeted Testing Testing for a known mutation in additional family member by sequence analysis Testing for a known mutation in additional family member by deletion/duplication analysis (MLPA) Testing for a known mutation in additional family member by deletion/duplication analysis (by array- CGH) Prenatal Testing Prenatal testing for known mutation by sequence analysis Prenatal testing for known deletion/duplication by MLPA Prenatal testing for known deletion/duplication by real-time q-pcr MISCELLANEOUS FEES STAT fee for known mutations, deletion/duplication testing, MS-MLPA or UPD*** STAT fee for full gene sequencing (single gene, requires prior approval)*** STAT fee for Next-Generation Sequencing panel (requires prior approval)*** Technical lab charge for initial processing of failed sample ROUTINE TESTS: 3-10cc of blood in a purple top (EDTA) tube PRENATAL: 20cc amniotic fluid, 25mgs chorionic villi, or 2 T25 flasks cultured cells, along with 3-10cc of mother s blood in an EDTA/purple top tube **Please note that we do not bill insurance directly for these specific tests. We apologize for the inconvenience. ***Please note that STAT testing is not available for all tests. Please contact the laboratory for more information weeks $1,545 gene specific 4 weeks $1, weeks $1, weeks $500 gene specific 4 weeks $1,000 gene specific 4 weeks $1, week $1, weeks $1, weeks $1, MAY CUT TAT IN HALF $ MAY CUT TAT IN HALF $ MAY CUT TAT IN HALF $1, $ /2015