1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany British Columbia Laboratory Requisition This requisition form, when completed, constitutes a referral to LifeLabs/BC Biomedical Laboratories physicians. Please ship NON-PRENATAL SAMPLES to: LIFELABS • Attn: CDS Department 100 International Boulevard• Toronto ON• M9W6J6 Attention Patient: Please visit your nearest LifeLabs or BCBiomedical Patient Service Centre for sample collection TO BE COMPLETED BY ORDERING DOCTOR AND PATIENT Patient Name (from CareCard or other ID) Gender Date of Birth Male Female YEAR MONTH DAY Patient Address Telephone Number Patient Email Bill to Patient: ✓(no charge at PSC) Doctor Name MSC # Organization

Address Fax Number Telephone Number Email

Copy to

Genetic Test - mnemonic ACG (Blood sample 2 x 4mL EDTA)

Genetic Test (Pediatric) - mnemonic CEN (Blood sample 1 x 2mL EDTA)

Genetic Test (Other Sample Type) - mnemonic OCG (other sample type) PRENATAL SAMPLES: Please ship directly to CENTOGENE.

Privacy Statement: The personal information collected on this form is collected under the authority of the Personal Information Protection act. The personal information is used to provide medical services requested on this requisition. The information collected is used for quality assurance management and disclosed to healthcare practitioners involved in providing care or when required or permitted by law. Personal information is protected from unauthorized use and disclosure in accordance with the Personal Information Protection act and when applicable the e-health act and/or the Freedom of Information and Protection of Privacy act and may be used and disclosed only as provided by those acts. our privacy policies are available at www.bcbio.com and www.lifelabs.com.

Genetic Testing Consent I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal health information may be sent to Centogene AG at their lab in Germany (address below). To ensure accurate testing, I agree that the results of any genetic testing that I have had previously completed by Centogene AG may be shared with LifeLabs. I understand that LifeLabs will contact me for a new specimen if a test result cannot be provided from the original specimen. I agree that a copy of my results will be sent to my ordering physician. I further agree that for any test(s) performed by Centogene AG, a copy of my results will also be sent to LifeLabs. I understand that once the requested test(s) has/have been completed, any remaining sample will be stored at the testing laboratory.

OPTIONAL CONSENT: Please Initial where appropriate

I agree that my de-identified sample may be used for product development or research purposes. I understand that I will not receive any royalties, resultant payments, benefits or rights to products or discoveries. I do not want my remaining sample to be stored. Please destroy any remaining sample once the final report has been issued. I have had genetic testing completed in the past by the following laboratories: I agree that Centogene AG and LifeLabs may obtain a copy of these genetic test results from the testing laboratory.

Patient/Substitute Decision Maker:

Signature: Date(YY/MM/DD):

Printed name: relationship to person being tested: OR I certify that verbal consent was obtained from the patient /substitute decision maker for the requested genetic testing

Signature: Date(YY/MM/DD):

For appointments at LifeLabs Patient Service Centres please call 1-855-412-4495. For appointments at BC Biomedical Patient Service Centres please call 1-877-507-5595

Date Doctor Signature

YEAR MONTH DAY TO BE COMPLETED BY LABORATORY STAFF Date /Time of Collection Phlebotomist

YEAR MONTH DAY

**Laboratory Staff: Photocopy Requisition and include one copy with samples in box** LL-GCG-001 - Ver 2 – JAN 2015

Page 1/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015

GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Sample Type: □ *Blood (EDTA: 5mL for single gene, 10mL for panel)

□ DNA (single gene:1-10ug, panel 10-100ug)

□ *Filter card (1 card/30 exons: Available by request) LifeLabs Demographic Label □ Saliva (Oragene OG-510: Available by request)

□ Fibroblast/Skin Biopsy (0.5cm2)

□ Cultured cells (1 flask, min 25cm2, 80-90% confluent)

□ **Amniotic fluid (10mL)

□ **Chorionic Villus (10 villi, cleaned) □ Other: ______

* Exact amount depends on size of panel, see www.centogene.com ** Please contact us prior to sending cells

Billing Status: □ Ministry of Health Approved (Approval letter attached) □ Ministry of Health Approval Pending

□ Institution (Complete information below) □ Private Pay (Complete information below)

Institution Billing ONLY: Institution Name: ______Contact Name: ______

Address:

Phone: ( ) - Fax: ( ) - Email: ______Private Pay ONLY: Credit Card Type: □ MasterCard □ Visa

Card Number______Exp Date(MM/YY)______

Name (as it appears on credit card)______I understand that my credit card will be charged for the full amount of testing not paid for by my provincial health plan

Cardholder Signature: ______Date (DD/MM/YYYY)______

Patient Information: Gender: □M □ F Ethnicity: ______Additional patient medical information:

Relevant Family history:

Have other family members submitted samples to Centogene for analysis? □Y □ N If yes, Name:______Relationship to patient ______

DOB (YYYY/MM/DD):______

Familial Testing Gene:______Mutation (HGVS):______□Familial Report attached

Testing Instructions: (ex: Reflex order) ** PLEASE INCLUDE A COPY OF REQUISITION WITH SAMPLES **

Page 2/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015

GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Sequencing (S), and/or Deletion/Duplication (D) analysis

Disorders of Skin, Teeth, & Hair NGS Panels:

S Congenital panel (ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1) S panel (COL17A1, LAMA3, LAMB3, LAMC2) Single genes: H D S Acne inversa familial type 3 (PSEN1) D S Epidermolytic palmoplantar (KRT9) Erythroderma, congenital, with , hypotrichosis and D S Adams-Oliver syndrome type 1 (ARHGAP31) D S hyper IgE (DSG1) D S Adams-Oliver syndrome type 2 (DOCK6) D S variabilis et progressiva (GJB3) D S Adams-Oliver syndrome type 3 (RBPJ) D S Erythrokeratodermia variabilis et progressiva (GJB4) D S Ankyloblepharon-ectodermal defects-cleft lip/palate (TP63) D S (PORCN) D S Albinism oculocutaneous nonsyndromic (SLC24A5) D S Griscelli syndrome type 1 (MYO5A) H D S Albinism, oculocutaneous type 1A (TYR) D S Griscelli syndrome type 3 (MLPH) H D S Albinism, oculocutaneous type 1B (TYR) D S Haim-Munk syndrome (CTSC) H D S Albinism, oculocutaneous type 2 (OCA2) D S Hyaline fibromatosis syndrome (ANTXR2) H D S Albinism, oculocutaneous type 2 (OCA2) D S Hypotrichosis Type 7 (LIPH) D S Albinism, oculocutaneous type 3 (TYRP1) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOX12B) H D S Albinism, oculocutaneous type 4 (SLC45A2) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (ALOXE3) D S Albinism oculocutaneous type 5 (C10ORF11) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (NIPAL4) H D S Amelogenesis imperfecta (DLX3) D S Ichthyosiform erythroderma, congenital, nonbullous type 1 (TGM1) D S Autosomal dominant woolly hair with hypotrichosis (KRT71) D S Ichthyosis congenita, Harlequin fetus type (ABCA12) D S Autosomal dominant woolly hair with hypotrichosis (KRT74) D S Ichthyosis congenital, autosomal recessive type 9 (CERS3) D S Bjornstad syndrome (BCS1L) D S Ichthyosis congenital, autosomal recessive PNPLA1 related (PNPLA1) Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome D S (SNAP29) D S Ichthyosis follicularis, atricia, and photophobia syndrome (MBTPS2) D S Chediak-Higashi syndrome (LYST) D S Ichthyosis prematurity syndrome (SLC27A4) D S CHIME syndrome (PIGL) H D S (FLG) D S Corneal intraepithelial dyskeratosis and (NLRP1) D S Ichthyosis, bullous type (KRT2) D S Craniosynostosis and dental anomalies (IL11RA) D S Ichthyosis, lamellar type 1 (TGM1) D S type 1B (EFEMP2) D S Ichthyosis, lamellar type 2 (ABCA12) D S Cutis laxa type 2B (PYCR1) D S Ichthyosis, lamellar type 3 (CYP4F22) D S Cutis laxa type 3B (PYCR1) D S Ichthyosis, lamellar type 4 (LIPN) D S Cutis laxa, autosomal dominant (ELN) D S Ichthyosis, spastic quadriplegia, and mental retardation (ELOVL4) H D S Dermatitis, atopic type 2 (FLG) D S Ichthyosis, X-linked (STS) D S , autosomal dominant type 1 (TERC) D S type 2 (IKBKG) D S Dyskeratosis congenita, autosomal dominant type 1 (TERT) D S Keratosis follicularis spinulosa declavans, X-linked (MBTPS2) D S Dyskeratosis congenita, autosomal recessive type 1 (NOP10) D S Keratosis palmoplantaris striata type 1 (DSG1) D S Dyskeratosis congenita, autosomal recessive type 2 (NHP2) D S Keratosis palmoplantaris striata type 2 (DSP) D S Dyskeratosis congenita, autosomal recessive type 5 (RTEL1) D S (FERMT1) D S Dyskeratosis congenita, X-linked (DKC1) D S Kindler syndrome (FBLIM1) D S Ectodermal dysplasia, ectrodactyly, and macular dystrophy (CDH3) D S Laryngoonychocutaneous syndrome (LAMA3) H D S Ectodermal dysplasia, hidrotic (GJB6) D S Legius syndrome (SPRED1) D S Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDAR) D S Mal de Meleda (SLURP1) D S Ectodermal dysplasia, hypohidrotic, autosomal recessive (EDARADD) D S (SPINK5) D S Ectodermal dysplasia, hypohidrotic, with immune deficiency (IKBKG) D S Oculodentodigital dysplasia (GJA1) D S Ectodermal dysplasia, hypohidrotic, X-linked (EDA) D S Odontoonychodermal dysplasia (WNT10A) H D S Epidermal nevus, somatic (NRAS) D S Olmsted syndrome (TRPV3) D S Epidermolysis bullosa dystrophica (COL7A1) D S Pachyonychia congenita type 1 (KRT6A) D S Epidermolysis bullosa, junctional (COL17A1) D S Papillon-Lefevre syndrome (CTSC) D S Epidermolysis bullosa, junctional (LAMB3) D S Peeling skin syndrome (CDSN) D S Epidermolysis bullosa, junctional (LAMC2) D S Peeling skin syndrome type A (CHST8) D S Epidermolysis bullosa, junctional LAMA3 (LAMA3) D S Peeling skin syndrome, acral type (TGM5) D S Epidermolysis bullosa junctionalis with pyloric atresia (ITGA6) D S Porokeratosis type 3, disseminated superficial actinic (MVK) D S Epidermolysis bullosa junctionalis with pyloric atresia (ITGB4) D S Porphyria cutanea tarda (UROD) D S Epidermolysis bullosa, lethal acantholytic (DSP) D S Psoriasis susceptibility type 11 (IL12B) D S Epidermolysis bullosa simplex (KRT5) D S Psoriasis, generalized pustular (IL36RN) D S Epidermolysis bullosa simplex (KRT14) D S Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PSTPIP1) D S Epidermolysis bullosa simplex, autosomal recessive (DST) D S Rapp-Hodgkin syndrome (TP63) D S Epidermolytic (KRT1) D S Restrictive dermopathy, lethal (ZMPSTE24) D S Epidermolytic hyperkeratosis (KRT10) D S Rothmund-Thomson syndrome (RECQL4)

Page 3/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015

GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of Skin, Teeth, & Hair (continued)

D S Skin fragility-woolly hair syndrome (DSP) D S Tylosis with esophageal cancer (RHBDF2) D S Skin hair eye pigmentation 6 (SLC24A4) D S UV-sensitive syndrome 3 (UVSSA) D S Telangiectasia hereditary hemorrhagic type 5 (GDF2) D S Vohwinkel syndrome with ichthyosis (LOR) D S Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 1 (ENG) D S Waardenburg syndrome type 1 (PAX3) Telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber Type 2 D S (ACVRL1) D S Waardenburg syndrome type 2E (SOX10) D S Tooth agenesis, selective type 1 (MSX1) D S Waardenburg syndrome type 4C (SOX10) D S Tooth agenesis, selective type 3 (PAX9) D S Witkop syndrome (MSX1) H D S Trichodontoosseous syndrome (DLX3) D S , group A (XPA) D S (ERCC2) D S Xeroderma pigmentosum, group C (XPC) D S Trichothiodystrophy (ERCC3) D S Xeroderma pigmentosum, group D (ERCC2) D S Trichothiodystrophy (GTF2H5) D S Xeroderma pigmentosum, group G (ERCC5) D S Trichothiodystrophy, nonphotosensitive type 1 (MPLKIP) D S Xeroderma pigmentosum, variant type (POLH)

Disorders of Bone & Connective Tissue

NGS Panels:

D S Ehlers-Danlos syndrome panel (COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB) D S Marfan syndrome and related disorders panel (ACTA2,COL3A1,COL5A1,COL5A2,FBN1,FBN2,MYH11,SLC2A10,SMAD3,TGFBR1,TGFBR2) S Metaphyseal dysplasia panel (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2) D S Multiple epiphyseal dysplasia panel (COL2A1,COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC6A2) D S panel (COL1A1, COL1A2, IFITM5) D S Osteogenesis imperfecta, autosomal recessive panel (BMP1, CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINH1, SP7) S Osteopetrosis panel (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A) D S Seckel syndrome panel (ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP) Single genes:

D S 3 M syndrome type 1 (CUL7) D S Chondrosarcoma (EXT1) D S 3 M syndrome type 2 (OBSL1) D S Cleidocranial dysplasia (RUNX2) D S Achondrogenesis, type IA (TRIP11) H D S Craniofacial-skeletal-dermatologic dysplasia (FGFR2) D S Achondrogenesis, type IB (SLC26A2) D S Craniometaphyseal dysplasia (ANKH) D S Achondroplasia (FGFR3) D S Craniosynostosis type 2 (MSX2) D S Acrodermatitis enteropathica (SLC39A4) D S Craniosynostosis type 3 (TCF12) D S Acrodysostosis 2 (PDE4D) D S Craniosynostosis and dental anomalies (IL11RA) D S Acrofacial dysostosis 1, Nager type (SF3B4) D S Crouzon syndrome with acanthosis nigricans (FGFR3) D S Acromesomelic dysplasia, Maroteaux type (NPR2) D S Diaphyseal medullary stenosis with malignant fibrous histiocytoma (MTAP) H D S Antley-Bixler syndrome (FGFR2) D S Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2) D S Alazami syndrome (LARP7) D S Ehlers-Danlos syndrome type 1/2 (COL5A1) H D S Apert syndrome (FGFR2) D S Ehlers-Danlos syndrome type 1/2 (COL5A2) D S Arthropathy of childhood, progressive pseudorheumatoid (WISP3) D S Ehlers-Danlos syndrome type 3 (TNXB) D S Atelosteogenesis type 1 (FLNB) H D S Ehlers-Danlos syndrome type 3 (COL3A1) D S Atelosteogenesis type 3 (FLNB) H D S Ehlers-Danlos syndrome type 4 (COL3A1) D S Baller-Gerold syndrome (RECQL4) D S Ehlers-Danlos syndrome type 4 (COL5A1) H D S Beare-Stevenson cutis gyrata syndrome (FGFR2) D S Ehlers-Danlos syndrome type 6 (PLOD1) H D S Bent bone dysplasia syndrome (FGFR2) H D S Ehlers-Danlos syndrome type 7A (COL1A1) D S Brachydactyly type A2 (BMPR1B) D S Ehlers-Danlos syndrome type 7B (COL1A2) D S Brachydactyly type A2 (BMP2) D S Ehlers-Danlos syndrome type 7C (ADAMTS2) Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and D S Brachydactyly type B1 (ROR2) D S hearing loss (FKBP14) D S Brachydactyly type E1 (HOXD13) D S Ehlers-Danlos syndrome, progeroid type 1 (B4GALT7) D S Brachydactyly, type A1 (GDF5) D S Exostoses, multiple, type 1 (EXT1) D S Brachydactyly-mental retardation syndrome (HDAC4) H D S Fibrochondrogenesis 2 (COL11A2) D S Brachydactyly-syndactyly syndrome (HOXD13) D S Fibrodysplasia ossificans progressiva (ACVR1) Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly Buschke-Ollendorff syndrome (LEMD3) D S D S (WNT7A) D S C syndrome (CD96) D S Floating-Harbor syndrome (SRCAP) D S Campomelic dysplasia (SOX9) D S Frank-ter Haar syndrome (SH3PXD2B) D S Camurati-Engelmann disease (TGFB1) D S Frontonasal dysplasia type 1 (ALX3) D S Chondrodysplasia punctata, X-linked recessive (ARSE) D S Geleophysic dysplasia (ADAMTSL2)

Page 4/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015

GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of Bone & Connective Tissue (continued)

D S Greig cephalopolysyndactyly syndrome (GLI3) H D S Osteoporosis pseudoglioma syndrome (LRP5) D S Gracile bone dysplasia (FAM111A) D S Otospondylomegaepiphyseal dysplasia (COL11A2) D S Holt-Oram syndrome (TBX5) D S Parietal foramina type 1 (MSX2)

D S Holt-Oram syndrome (SALL4) H D S Pfeiffer syndrome (FGFR2)

D S Hypertrophic osteoarthropathy type 1 (HPGD)) D S Postaxial acrofacial dysostosis (DHODH) D S Hypertrophic osteoarthropathy type 2 (SLCO2A1) D S Pseudoachondroplasia (COMP)

D S Jackson-Weiss syndrome (FGFR2) D S Pycnodysostosis (CTSK)

D S Klippel-Feil syndrome type 1, autosomal dominant (GDF6) D S Radioulnar synostosis, FGFRL1 related (FGFRL1)

D S Klippel-Feil syndrome type 3, autosomal dominant (GDF3) D S RAPADILINO syndrome (RECQL4) D S Langer-Giedion syndrome (EXT1) D S Rhizomelic chondrodysplasia punctata type 2 (GNPAT)

D S Langer-Giedion syndrome (TRPS1) D S Rhizomelic chondrodysplasia punctata type 3 (AGPS)

D S Larsen syndrome (FLNB) D S Roberts syndrome (ESCO2)

D S Loeys-Dietz syndrome type 1A (TGFBR1) D S Robinow syndrome (ROR2)

D S Loeys-Dietz syndrome type 1B (TGFBR2) D S Robinow syndrome (WNT5A)

D S Loeys-Dietz syndrome type 1C (SMAD3) D S Rubinstein-Taybi syndrome (CREBBP)

D S Loeys-Dietz syndrome type 2A (TGFBR1) D S Rubinstein-Taybi syndrome (EP300)

D S Loeys-Dietz syndrome type 2B (TGFBR2) D S Saethre-Chotzen syndrome (TWIST1)

D S Mandibulofacial dysostosis with microcephaly (EFTUD2) H D S Saethre-Chotzen syndrome (FGFR2)

H D S Marfan syndrome (FBN1) H D S Scaphocephaly, maxillary retrusion, and mental retardation (FGFR2) D S Meier-Gorlin syndrome 1 (ORC1) D S SC Phocomelia syndrome (ESCO2) D S Meier-Gorlin syndrome 4 (CDT1) D S Seckel syndrome type 1 (ATR) D S Metaphyseal anadysplasia type 1 (MMP13) D S Seckel syndrome type 2 (RBBP8) D S Metaphyseal anadysplasia type 2 (MMP9) D S Seckel syndrome type 4 (CENPJ) D S Metaphyseal dysplasia without hypotrichosis (RMRP) D S Seckel syndrome type 5 (CEP152) D S Microcephalic osteodysplastic primordial dwarfism type 1 (RNU4ATAC) D S Seckel syndrome type 6 (CEP63) D S Microcephalic osteodysplastic primordial dwarfism type 2 (PCNT) D S Seckel syndrome type 8 (ATRIP) D S Multicentric carpotarsal osteolysis syndrome (MAFB) D S Short stature syndrome (SHOX) D S Multicentric osteolysis, nodulosis, and arthropathy (MMP2) D S Short stature syndrome (GHR) D S Multiple epiphyseal dysplasia type 3 (COL9A3) D S Short-rib thoracic dysplasia type 4 with or without polydactyly (TTC21B) D S Multiple epiphyseal dysplasia type 5 (MATN3) D S Short-rib thoracic dysplasia type 6 with or without polydactyly (NEK1) D S Nail-Patella syndrome (LMX1B) D S Shprintzen-Goldberg syndrome (SKI) D S Omodysplasia type 1 (GPC6) D S Spondylocarpotarsal synostosis syndrome (FLNB) D S Opsismodysplasia (INPPL1) D S Spondylocostal dysostosis, autosomal recessive type 1 (DLL3) D S Orofacial cleft type 5 (MSX1) D S Spondylocostal dysostosis, autosomal recessive type 2 (MESP2) D S Orofacial cleft type 11 (BMP4) D S Spondylocostal dysostosis, autosomal recessive type 3 (LFNG) H D S Osteogenesis imperfecta (COL1A1) D S Spondyloenchondrodysplasia with immune dysregulation (ACP5) D S Osteogenesis imperfecta (COL1A2) D S Spondyloepimetaphyseal dysplasia, MATN3-related (MATN3) D S Osteogenesis imperfecta type 5 (IFITM5) D S Spondyloepimetaphyseal dysplasia, Missouri type (MMP13) D S Osteogenesis imperfecta type 7 (CRTAP) D S Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3) D S Osteogenesis imperfecta type 8 (LEPRE1) D S Spondylo-megaepiphyseal-metaphyseal dysplasia (NKX3-2) D S Osteogenesis imperfecta type 9 (PPIB) D S Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2) D S Osteogenesis imperfecta, type 10 (SERPINH1) D S Stuve-Wiedemann syndrome (LIFR) D S Osteogenesis imperfecta type 11 (FKBP10) D S Terminal osseous dysplasis (FLNA) D S Osteogenesis imperfecta, type 12 (SP7) D S Tetraamelia, autosomal recessive (WNT3) D S Osteogenesis imperfecta, type 13 (BMP1) D S Treacher Collins syndrome type I (TCOF1) D S Osteogenesis imperfecta, type 14 (TMEM38B) D S Treacher Collins syndrome type 2 (POLR1D) D S Osteogenesis imperfecta with congenital joint contractures (PLOD2) D S Treacher Collins syndrome type 3 (POLR1C) D S Osteomyelitis, sterile multifocal, with periostitis and pustulosis (IL1RN) D S Trichorhinophalangeal syndrome, type I (TRPS1) D S Osteopathia striata with cranial sclerosis (AMER1) D S Ulna and fibula, absence of, with severe limb deficiency (WNT7A) D S Osteopetrosis of infancy, malignant (SNX10) D S Ulnar-Mammary syndrome (TBX3) D S Osteopetrosis, autosomal dominant type 1 (CLCN7) D S Van den Ende-Gupta syndrome (SCARF2) D S Osteopetrosis, autosomal recessive type 1 (TCIRG1) D S Van der Woude Syndrome (GRHL3) D S Osteopetrosis, autosomal recessive type 2 (TNFSF11) D S Weaver syndrome (NSD1) D S Osteopetrosis, autosomal recessive type 3 (CA2) D S Weaver syndrome (EZH2) D S Osteopetrosis, autosomal recessive type 4 (CLCN7) D S Weill-Marchesani syndrome type 3 (LTBP2) D S Osteopetrosis, autosomal recessive type 5 (OSTM1) D S Winchester Syndrome (MMP14) D S Osteopetrosis, autosomal recessive type 6 (PLEKHM1) D S Wolcott-Rallison syndrome (EIF2AK3) D S Osteopetrosis, autosomal recessive type 7 (TNFRSF11A)

Page 5/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015

GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Disorders of the Immune System

NGS Panels: Generalized epilepsy with febrile seizures D S panel (GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A) D S Hemophagocytic Lymphohistiocytosis panel (PRF1, UNC13D, STX11, STXBP2) D S Periodic fever syndrome panel (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A) Single genes:

D S Atypical Mycobacterial infection (IKBKG) D S Immunodeficiency type 14 (PIK3CD)

D S Atypical Mycobacterial infection (IFNGR2) D S Autoimmune lymphoproliferative syndrome type 1A (FAS)

D S Atypical Mycobacterial infection (IL12RB1) D S Autoimmune lymphoproliferative syndrome type 1B (FASLG)

D S Atypical Mycobacterial infection (IL12RB2) D S Autoimmune lymphoproliferative syndrome type 2A (CASP10)

D S Atypical Mycobacterial infection (STAT1) D S Autoimmune lymphoproliferative syndrome type 2B (CASP8)

D S Autoimmune polyendocrinopathy syndrome type I (AIRE) H D S Autoimmune lymphoproliferative syndrome type 4 (NRAS)

D S Bare lymphocyte syndrome, type 2 (RFXANK) D S Immunodeficiency, isolated (IKBKG) D S C2 deficiency (C2) H D S Immunodeficiency with natural killer cell deficiency (MCM4) D S C3 deficiency (C3) D S Immunodeficiency, X-linked with hyper-IgM (CD40LG) Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus D S D S C7 deficiency (C7) infection and neoplasia (MAGT1) Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked D S Celiac disease, susceptibility to (HLA-DQA1) D S (FOXP3) D S Celiac disease, susceptibility to (HLA-DQB1) D S Immunological disorder, PECAM1-related (PECAM1) D S Chediak-Higashi syndrome (LYST) D S Interleukin 2 receptor deficiency (IL2RA) D S Cold autoinflammatory syndrome type 2 (NLRP12) D S Invasive pneumococcal disease, recurrent isolated type 2 (IKBKG) Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative D S (CYBA) D S Langerhans cell histiocytosis, ARAF-related (ARAF) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S 1 (NCF1) H D S LIG4 syndrome (LIG4) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S 2 (NCF2) D S Major histocompatibility comples 1 deficiency (MR1) Chronic granulomatous disease, autosomal recessive, cytochrome b- positive, type D S D S 3 (NCF4) Mediterranean fever (MEFV) D S Chronic granulomatous disease, X-linked (CYBB) D S Muckle-wells syndrome (NLRP3) D S Combined cellular and humoral immune defects with granulomas (RAG2) D S Mycobacterial infection, atypical, familial disseminated (IFNGR1) Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive D S (RAG2) D S Omenn syndrome (RAG2) D S Combined immunodeficiency, X-linked, moderate (IL2RG) D S Omenn syndrome (DCLRE1C) D S Diarrhea type 2 with microvillus atrophy (MYO5B) D S Periodic fever autosomal dominant (TNFRSF1A) Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper D S IgE (DSG1) D S Reticular dysgenesis (AK2) D S Hemophagocytic lymphohistiocytosis type 1 (PRF1) D S Rheumatoid arthritis, susceptibility to (AFF3) D S Hemophagocytic lymphohistiocytosis type 3 (UNC13D) D S Rheumatoid arthritis, TNFAIP3-related (TNFAIP3) D S Hemophagocytic lymphohistiocytosis type 4 (STX11) D S Schimke immunoosseous dysplasia (SMARCAL1) Severe combined immunodeficiency autosomal recessive T negative B D S Hemophagocytic lymphohistiocytosis type 5 (STXBP2) D S positive type (JAK3) D S Herpes simplex encephalitis type 2, susceptibility to (TLR3) D S Hyper-IgE recurrent infection syndrome (STAT3) D S Severe combined immunodeficiency due to ADA deficiency (ADA) Severe combined immunodeficiency with microcephaly, growth retardation, D S Hyper-IgE recurrent infection syndrome, autosomal recessive (DOCK8) D S and sensitivity to ionizing radiation (NHEJ1) D S Hypereosinophilic syndrome, idiopathic, resistant to imatinib (PDGFRA) D S Severe combined immunodeficiency, B cell-negative (RAG1) D S Immunodeficiency common variable 1 (ICOS) D S Systemic lupus erythematosus (DNASE1) D S Immunodeficiency, common variable type 7 (CR2) D S Systemic lupus erythematosus, susceptibility to (ITGAM) D S Immunodeficiency type 2, with hyper-IgM (AICDA) D S Vitiligo-associated multiple autoimmune disease (NLRP1) D S Immunodeficiency type 5, with hyper IgM (UNG)

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GENETIC TESTING REQUISITION SKIN, BONE & IMMUNE SYSTEM 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Other

NGS Panels:

S Arthrogryposis panel (TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2) D S Cornelia de Lange syndrome panel (HDAC8, NIPBL, RAD21, SMC1A, SMC3) D S Neurofibromatosis panel (NF1, NF2, SPRED1) D S Noonan - CFC syndrome panel (BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1) Single genes:

D S 3MC1 syndrome (MASP1) H D S Bifid nose (FREM1) D S 3MC2 syndrome (COLEC11) D S (BLM) D S ADULT syndrome, split hand-foot malformation (TP63) D S Cantu syndrome (ABCC9) D S Arthrogryposis, distal type 1 (TPM2) D S CLOVE syndrome (PIK3CA) D S Cole disease (ENPP1) D S Arthrogryposis, distal type 1 (MYBPC1) D S Club foot (PITX1) D S Arthrogryposis, distal type 2A (MYH3) D S Cockayne syndrome, type A (ERCC8) D S Arthrogryposis, distal type 2B (TNNT3) D S Craniofrontonasal syndrome (EFNB1) D S Arthrogryposis, distal type 2B (MYH3) D S Cornelia de Lange syndrome type 1 (NIPBL) D S Arthrogryposis, distal type 2B (TNNI2) D S Cornelia de Lange syndrome type 2 (SMC1A) D S Arthrogryposis, distal type 7 (MYH8) H D S Cornelia de Lange syndrome type 3 (SMC3) D S Arthrogryposis, distal type 9 (FBN2) D S Cornelia de Lange syndrome type 4 (RAD21) D S Arthrogryposis, mental retardation and seizures (SLC35A3) D S Cornelia de Lange syndrome type 5 (HDAC8) D S Arthrogryposis, renal dysfunction and cholestasis (VPS33B) D S Currarino syndrome (MNX1) D S Autoinflammation, lipodystrophy and dermatosis syndrome (PSMB8) D S Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (TP63) Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial D S Auriculocondylar syndrome (GNA13) D S hyperostosis (COX412) D S Auriculocondylar syndrome type 2 (PLCB4) D S Faciogenital dysplasia, Aarskog-Scott syndrome (FGD1)

D S Feingold syndrome (MYCN) D S Multiple pterygium syndrome lethal type (CHRND) D S Feingold syndrome type 2 (MIR17HG) D S Neurofibromatosis type 1 (NF1) D S Fetal akinesia deformation sequence (DOK7) D S Neurofibromatosis type 1 (SPRED1) D S Fetal akinesia deformation sequence (RAPSN) D S Neurofibromatosis type 2 (NF2) D S Fraser syndrome (GRIP1) D S Noonan syndrome like (SHOC2) D S Fraser syndrome (FREM2) D S Noonan syndrome type 1 (PTPN11) D S Frasier syndrome (WT1) D S Noonan syndrome type 3 (KRAS) D S Genitopatellar syndrome (KAT6B) D S Noonan syndrome type 4 (SOS1) D S Hamamy syndrome (IRX5) D S Noonan syndrome type 5 (RAF1) D S IMAGe syndrome (CDKN1C) H D S Noonan syndrome type 6 (NRAS) D S Jawad syndrome (RBBP8) H D S Noonan syndrome type 7 (BRAF) Noonan syndrome-like disorder with or without juvenile meylomonocytic D S D S KBG syndrome (ANKRD11) leukemia (CBL) D S Keutel syndrome (MGP) D S Oral-facial-digital syndrome type 1 (OFD1) D S LADD syndrome (FGF10) D S Oral-facial-digital syndrome type 4 (TCTN3) H D S LADD syndrome (FGFR2) D S Oral-facial-digital syndrome type 5 (DDX59) H D S LEOPARD syndrome 3 (BRAF) D S Otofaciocervical syndrome (EYA1) D S Lethal congenital contracture syndrome 4 (MYBPC1) D S Popliteal pterygium syndrome, lethal type (RIPK4) D S Limb-mammary syndrome (TP63) D S Pterygium syndrome (CHRNG) D S -distichiasis syndrome (FOXC2) D S Syndactyly type 1 (HOXD13) D S Majeed syndrome (LPIN2) D S Syndactyly type 5 (HOXD13) D S Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24) D S Toe syndactyly, telecanthus, and anogenital andrenal malformations (FAM58A) H D S McKusick-Kaufman syndrome (MKKS) D S VACTERL association (HOXD13) Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital D S D S heart defects (B3GAT3) Vici syndrome (EPG5) D S Multiple pterygium syndrome lethal type (CHRNA1)

Page 7/7 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan 2015