The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 | Local: 773.834.0555 | Fax: 773-702-9130 [email protected] | dnatesting.uchicago.edu | CLIA#: 14D0917593 | CAP#: 18827-49 QUICK GUIDE TO GENETIC TESTING TEST DISORDER CPT TAT COST Aceruloplasminemia testing CP sequencing 81406 4 weeks $2,200 Aceruloplasminemia CP deletion/duplication 81405 4 weeks $1,000 Albinism testing Albinism Sequencing Panel (20 genes sequencing)** 81407 8 weeks $3,500 Albinism Deletion/Duplication Panel (20 genes deletion/duplication analysis) 81407 6 weeks $2,500 Alstrom syndrome testing ALMS1 sequencing 81406 4 weeks $1,700 Alstrom syndrome ALMS1 deletion/duplication 81405 4 weeks $1,000 Alternating Hemiplegia of Childhood testing ATP1A3 sequencing Alternating hemiplegia of childhood 81406 4 weeks $2,025 Angelman syndrome MS-MLPA (detects methylation and deletions in 15q11- 81331 4 weeks $525 13) UPD 15 testing (requires samples from both parents 81402 4 weeks $540 also) Angelman syndrome Imprinting center deletion analysis 81403 4 weeks $450 UBE3A sequencing 81406 4 weeks $1,500 UBE3A deletion/duplication 81405 4 weeks $1,000 SLC9A6 sequencing 81406 4 weeks $1,500 X-linked Angelman-like syndrome SLC9A6 deletion/duplication 81405 4 weeks $1,000 Angelman Syndrome Tier 2 Panel ( MECP2,TCF4, SLC9A6 and UBE3A sequencing and 81479 4 weeks $4,400 deletion/duplication) Rett/Angelman Syndrome Sequencing Panel (21 genes sequencing)** 81407 8 weeks $4,400 Rett/Angelman Syndrome Deletion/Duplication Panel (19 genes deletion/duplication) 81407 6 weeks $2,500 Aniridia testing PAX6 sequencing 81406 4 weeks $1,600 PAX6 deletion/duplication 81405 4 weeks $1,000 Ataxia Ataxia Exome Panel (331 genes)** 81415 8-10 weeks $4,800 Baraitser Winter syndrome testing Baraitser Winter syndrome sequencing panel (ACTB and ACTG1 sequencing) 81406 8 weeks $2,900 Baraitser Winter syndrome deletion/duplication panel (ACTB and ACTG1 del/dup) 81405 4 weeks $1,545 Beckwith-Wiedemann syndrome/IMAGe syndrome testing CDKN1C sequencing Beckwith-Wiedemann syndrome 81404 4 weeks $840 Bernard-Soulier syndrome testing GPIbβ sequencing 81403 4 weeks $400 Bernard-Soulier syndrome GPIbβ deletion/duplication 81402 4 weeks $1,000 Brain Malformation testing Cerebellar/Pontocerebellar Hypoplasia Sequencing 81407 8 weeks $3,975 Panel (17 genes sequencing) Cerebellar/Pontocerebellar Hypoplasia Deletion/Duplication Panel (17 genes 81407 6 weeks $2,500 deletion/duplication analysis) Cerebellar/Pontocerebellar Hypoplasia TSEN54 sequencing 81406 4 weeks $1,000 (PCH) TSEN54 deletion/duplication 81405 4 weeks $1,000 CASK sequencing 81407 4 weeks $2,040 CASK deletion/duplication 81406 4 weeks $1,000 OPHN1 sequencing 81406 4 weeks $1,800 OPHN1 deletion/duplication 81405 4 weeks $1,000 Cerebral Cortical Malformations Sequencing Panel (46 81407 8 weeks $3,900 genes sequencing )** Cerebral Cortical Malformations Cerebral Cortical Malformations Deletion/Duplication 81407 6 weeks $2,500 Panel (25 genes deletion/duplication analysis) Holoprosencephaly Sequencing Panel (9 genes 81407 8 weeks $3,500 sequencing)** Holoprosencephaly Holoprosencephaly Deletion/Duplication Panel (9 genes 81407 6 weeks $1,545 deletion/duplication analysis) L1CAM sequencing 81407 4 weeks $1,980 L1 syndrome L1CAM deletion/duplication 81406 4 weeks $1,000 Autosomal Recessive Non-Syndromic Hydrocephalus 81407 4 weeks $2,900 Sequencing Panel (CCDC88C and MPDZ sequencing) Hydrocephalus Autosomal Recessive Non-Syndromic Hydrocephalus Deletion/Duplication Panel (CCDCC8C and MPDZ 81407 4 weeks $1,545 deletion/duplication analysis) 1 8/2015 The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 | Local: 773.834.0555 | Fax: 773-702-9130 [email protected] | dnatesting.uchicago.edu | CLIA#: 14D0917593 | CAP#: 18827-49 QUICK GUIDE TO GENETIC TESTING TEST DISORDER CPT TAT COST Comprehensive Lissencephaly panel (26 genes 81479 8 weeks $6,000 sequencing and deletion/duplication analysis)** Cobblestone Lissencephaly Sequencing Panel (18 81407 8 weeks $3,975 genes sequencing analysis)** Cobblestone Lissencephaly Deletion/Duplication Panel 81407 6 weeks $1,545 (8 genes deletion/duplication analysis) DCX (XLIS) sequencing 81405 4 weeks $660 DCX deletion/duplication Lissencephaly 81404 4 weeks $1,000 PAFAH1B1 (LIS1) sequencing 81405 4 weeks $1,000 PAFAH1B1 (LIS1) deletion/duplication 81404 4 weeks $1,000 TUBA1A sequencing 81404 4 weeks $900 TUBA1A deletion/duplication 81403 4 weeks $1,000 ARX sequencing 81404 4 weeks $900 ARX deletion/duplication 81403 4 weeks $1,000 OPHN1 sequencing 81406 4 weeks $1,800 OPHN1 deletion/duplication 81405 4 weeks $1,000 Polymicrogyria Sequencing Panel (15 genes 81407 8 weeks $3,700 sequencing)** Polymicrogyria Deletion/Duplication Panel (11 genes 81407 6 weeks $2,500 deletion/duplication analysis) GPR56 sequencing 81406 4 weeks $1,200 GPR56 deletion/duplication 81405 4 weeks $1,000 Polymicrogyria OCLN sequencing (exons 2 - 5) 81405 4 weeks $875 OCLN deletion/duplication (exons 2 - 5) 81404 4 weeks $1,000 TUBB2B sequencing 81404 4 weeks $1,000 TUBB2B deletion/duplication 81403 4 weeks $1,000 TUBB3 sequencing 81404 4 weeks $1,000 TUBB3 deletion/duplication 81403 4 weeks $1,000 CHARGE syndrome testing CHD7 sequencing 81407 4 weeks $2,400 CHARGE syndrome CHD7 deletion/duplication 81406 4 weeks $1,000 CHILD syndrome testing NSDHL sequencing 81405 4 weeks $1,000 CHILD syndrome NSDHL deletion/duplication 81404 4 weeks $1,000 CHIME syndrome testing PIGL sequencing 81405 4 weeks $1,000 CHIME syndrome PIGL deletion/duplication 81404 4 weeks $1,000 Chondrodysplasia punctata testing ARSE sequencing 81405 4 weeks $900 X-linked recessive (CDPX1) ARSE deletion/duplication 81404 4 weeks $1,000 EBP sequencing 81404 4 weeks $540 X-linked dominant (CDPX2) EBP deletion/duplication 81403 4 weeks $1,000 Tier 1: PEX7 sequencing Rhizomelic Chondrodysplasia Punctata 81405 4 weeks $1,200 Tier 2: GNPAT and AGPS sequencing Series 81407 4 weeks $2,400 Rhizomelic Chondrodysplasia Punctata Sequencing Panel (PEX7 , GNPAT and AGPS 81407 4 weeks $2,650 sequencing) Ciliopathy testing Bardet-Biedl Syndrome Sequencing Panel (16 genes 81407 8 weeks $3,300 sequencing)** Bardet-Biedl syndrome Bardet-Biedl Syndrome Deletion/Duplication Panel (16 81407 6 weeks $2,500 genes deletion/duplication analysis) Joubert/Meckel Gruber Syndrome Sequencing Panel 81407 8 weeks $3,890 (26 genes sequencing)** Joubert syndrome and Meckel Gruber Joubert/Meckel Gruber Syndrome Deletion/Duplication syndrome 81407 6 weeks $2,500 Panel (26 genes deletion/duplication analysis) Meckel Gruber Syndrome Sequencing Panel (11 genes 81407 8 weeks $2,890 sequencing)** Meckel Gruber syndrome Meckel Gruber Syndrome Deletion/Duplication Panel 81407 6 weeks $2,500 (11 genes deletion/duplication) Nephronophthisis Sequencing Panel (13 genes 81407 8 weeks $2,900 sequencing)** Nephronophthisis Nephronophthisis Deletion/Duplication Panel (13 genes 81407 6 weeks $2,500 deletion/duplication analysis) Coffin-Siris syndrome testing Coffin-Siris Syndrome Sequencing Panel (11 genes sequencing)** 81407 8 weeks $3,400 Coffin-Siris Syndrome Deletion/Duplication Panel (6 genes deletion/duplication testing) 81407 6 weeks $1,545 2 8/2015 The University of Chicago Genetic Services Laboratories 5841 South Maryland Avenue, Room G701/MC0077, Chicago, IL 60637 Toll Free: 888.824.3637 | Local: 773.834.0555 | Fax: 773-702-9130 [email protected] | dnatesting.uchicago.edu | CLIA#: 14D0917593 | CAP#: 18827-49 QUICK GUIDE TO GENETIC TESTING TEST DISORDER CPT TAT COST Combined D-2 and L-2-Hydroxyglutaric aciduria testing SLC25A1 sequencing 81405 4 weeks $1,675 Congenital heart defects (isolated) testing NKX2.5 sequencing 81404 4 weeks $430 Isolated congenital heart defects NKX2.5 deletion/duplication 81403 4 weeks $1,000 Congenital Muscle Disease testing Congenital Myopathy Sequencing Panel (19 genes sequencing)** 81407 8 weeks $3,500 Congenital Myopathy Deletion/Duplication Panel (17 genes deletion/duplication analysis) 81407 6 weeks $2,500 Congenital Muscular Dystrophy Sequencing Panel (24 genes sequencing)** 81407 8 weeks $3,890 Congenital Muscular Dystrophy Deletion/Duplication Panel (23 genes deletion/duplication analysis) 81407 6 weeks $2,500 Congenital Myopathy with Prominent Contractures Sequencing Panel (11 genes sequencing)** 81407 8 weeks $3,500 Congenital Myopathy with Prominent Contractures Deletion/Duplication Panel (11 genes 81407 6 weeks $2,500 deletion/duplication analysis) Limb Girdle Muscular Dystrophy Sequencing Panel (31 genes sequencing)** 81407 8 weeks $3,900 Limb Girdle Muscular Dystrophy Del/Dup Panel (25 genes deletion/duplication analysis) 81407 6 weeks $2,500 Congenital Myasthenic Syndrome Sequencing Panel (18 genes sequencing)** 81407 8 weeks $3,600 Congenital Myasthenic Syndrome Deletion/Duplication Panel (13 genes deletion/duplication 81407 6 weeks $2,500 analysis) BIN1 sequencing 81406 4 weeks $1,440 BIN1 deletion/duplication Autosomal recessive centronuclear 81405 4 weeks $1,000 RYR1 sequencing myopathy 81408 4 weeks $2,200 RYR1 deletion/duplication 81407 4 weeks $1,000 DNM2 sequencing Autosomal dominant centronuclear 81406 4 weeks $1,560 DNM2 deletion/duplication myopathy, CMT 81405 4 weeks $1,000 MTM1 sequencing 81406 4 weeks $1,200 X-linked myotubular myopathy MTM1 deletion/duplication 81405 4 weeks $1,000 Cornelia de Lange syndrome testing Tier 1: NIPBL sequencing & deletion/duplication