Patient data (please fill out clearly in block letters)

Family name

I request and authorize bio.logis Center for Human Genetics to perform the designated tests for my (or my child´s) sample. My signature below constitutes my acknowledgement that the benefits, risks and limitations of this testing have been explained to my satisfaction by a qualified health professional.

The following has been explained to me:

1. The purpose of my DNA test is to look for mutations known to beassociated with the following genetic condition or disease:

2. The testing may:· diagnose whether or not I (or my child) have a particular condition or

am (is) at risk of developing this condition.· indicate whether or not I (or my child) am (is) a carrier of this condition.· predict another family member has or is at risk developing this

condition.· predict another family member is a carrier of this condition.· not give a definite answer about diagnosis.· result in unexpected findings which may or may not be related to the

investigated disease.3. For optimal test interpretation clinical information and family history are

often necessary.4. In some families genetic analysis might discover non-paternity (someone

who is not the biological father), or other previously unknown informationabout family relationships.

5. If the analysis is performed prenatally, contamination of the fetal samplewith maternal cells can occur. This can influence results of analysis, theirinterpretation and wrong conclusions can be drawn. To exclude such asituation each molecular prenatal analysis is combined with an analysisthat tests for contamination (microsatellite analysis).

6. All test results are treated with standard medical confidentiality. It is myresponsibility alone to inform other family members of genetic risks theymay have, and that results will only be released to my physician(s) and me.

7. The results of the test may be saved for a longer time than the legallyrequired ten years. This can be important for future family analyses.

8. Once the test has been performed I will leave the remaining sampleif any to the laboratory which has performed the analysis (this isaccording to German law § 950 BGB). I agree to the possible use of my (ormy child´s) anonymised sample for scientific purposes.

(delete where not applicable)

As a result of this testing a genetic consultation may apply. This consultation can be done in person or through the use of electronic communication media (e. g. video conference).I have been informed about my right to rescind this agreement. I have read this informed consent and understand it. I have read and received a copy of this consent form. I confirm that I agree with the planned genetic analysis as outlined above.

place / date

name / first name: patient / legal guardian (please print)

signature

Physician:I have explained to the proband who signed above the purpose of this gene-tic testing, the procedures required and the possible risks and benefits to the best of my ability.

Professional obtaining consent signatureDate

First name Date of birth

ID. No.malefemale

Sample type

Indication – Clinical data Please be aware that detailed pedigree and clinical information are an absolute prerequisite to interprete the molecular genetic analysis adequately. For this reason it is highly important to specify the minimum of the following information:

Blood / EDTA tubeBlood / heparin tubeAmniotic fluid

Chorionic villiPercutaneous umbilical bloodProduct of conception (POC)

DNAothers, please specify

No. of tubes sentSampling date: Time:

Client data

Physician

Request form

Molecular Genetic Analyses (DNA Analyses)

Age

nono

yesyes

Patient / proband is affectedFamily members affected

if yes, who is affected:

clinical history / previous reports: Ethnic origin:Western / Northern EuropeCentral / Eastern Europe

AfricaLatin America /

CaribbeanNative American

AsiaNeareast / Mideast Other

Information and informed consent for molecular genetic analysis. Consent of the patient or his / her legal guardian is a prerequisite for the test according to the German law for genetic diagnosis (GenDG).

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bio.logis Center for Human GeneticsProf. Dr. med. D. Steinberger · Human GeneticistAltenhöferallee 3 · 60438 Frankfurt am Main · GermanyT +49 69 - 530 84 37- 0 · T +49 69 - 530 84 37- 11www.biologis.com · info@biologis.com

Day Month Year

Familial mediterranean fever (FMF) Fanconi anemia (FA)2)3)

Fragile X syndrome (FMR1) Frasier syndrome Friedreich ataxia 1 (FRDA)2)

Fructose intolerance, hereditary (Aldolase B deficiency) Gilbert syndrome (UGT1A/TA polymorphism) Glucose-6-phosphate dehydrogenase (G6PD) Glutathione S-transferase genotyping

Glutathione S-transferase, Mu-1 (GSTM1) Glutathione S-transferase, Pi (GSTP1) Glutathione S-transferase, Theta-1 (GSTT1)

Hemochromatosis (HFE) Hemophilia A2)

Hemophilia B2)

Human immunodeficiency virus (HIV) Type 1, susceptibility to (CCR5, ∆32BP, CCR2 V64I, SDF1 3‘A polymorphism)

Huntington disease (HD) (2 x 5 ml EDTA blood)2)

Hypercholesterolemia, familial Apolipoprotein B (APOB) genotyping Apolipoprotein E (APOE) genotyping Low density lipoprotein receptor (LDLR gene analysis)

Hyper-IgD syndrome Hypochondroplasie (HCH) Inflammatory bowel disease 1, IBD1 (Crohn disease) Jackson-Weiss syndrome Janus kinase 2 (JAK2) genotyping, V617F polymorphism Kinship testing / Paternity testing2)

Simple descendancy expertise Complex descendancy expertise

Kniest dysplasia Lactose intolerance (-13910T>C polymorphism) Langer mesomelic dysplasia Leber optic atrophy2)

LEOPARD syndrome Leri-Weill dyschondrosteosis (LWD) Long QT syndrome2)

Jervell and Lange-Nielsen syndrome (JLNS1)

Romano-Ward syndrome (RWS) Low density lipoprotein receptor (LDLR gene analysis) Marfan syndrome2)

Maturity Onset Diabetes of the Young Type 1, MODY1 (HNF4 gene analysis) Type 2, MODY2 (GCK gene analysis) Type 3, MODY3 (HNF1 gene analysis) Type 4, MODY4 (PDX1 gene analysis) Type 5, MODY5 (HNF1 gene analysis) Type 6, MODY6 (NEUROD1 gene analysis) Type 7, MODY7 (KLF11 gene analysis) Type 8, MODY8 (CEL gene analysis) Type 9, MODY9 (PAX4 gene analysis)

Whole Exome Sequencing (WES)

Whole exome screening

Analyses in alphabetical orderOMIM OMIM OMIM

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Achondrogenesis, Type 2 (ACG2) Achondroplasia (ACH) Acromesomelic dysplasia, Hunter-Thompson-Type Acute lymphatic leukemia (BCR/ABL) Acyl-CoA dehydrogenase, mediumchain, deficiency of (MCAD) Adenomatous polyposis of the colon (APC)2)

ADRB2-Genotyping #109690, (R16G, Q27E, T164I) Adrenal hyperplasia, congenital

21-Hydroxylase deficiency11-Beta-hydroxylase deficiency2)

17-Alpha-hydroxylase deficiency2)

3-Beta-hydroxysteroid dehydrogenasedeficiency2)

Alagille syndrome2)

Alpha-Galactosidase A deficiency (Fabry disease) Alpha-thalassemia1)2)

Major Minor

Alzheimer disease Type 1, APP gene analysis2)

Type 2, PSEN1 gene analysis2)

Type 3, PSEN2 gene analysis2)

Apolipoprotein E Amyloid polyneuropathy, familial2)

Amyloidosis, familial visceral2)

LYZ gene analysis FGA gene analysis APOA1 gene analysis

Amyotrophic lateral sclerosis2)

ALS 1, SOD1 gene analysis ALS 2, Alsin gene analysis

Angelman syndrome (AS) Methylation analysis, SNRPN gene region UBE3A gene analysis

Angiotensin 1-converting enzyme (ACE), insertion/deletion polymorphism Aniridia Apert syndrome Apolipoprotein B (APOB) genotyping Apolipoprotein E (APOE) genotyping Aristaless-related gene related disorders (ARX), X-linked2)

Azoospermia, nonobstructive (Azoospermia factor regions, included), Y-linked2)

Beckwith-Wiedemann syndrome (BWS) Beta-thalassemia1)2)

Major Minor

Brachydactyly, Type C (BDC) Breast cancer / Ovarian cancer (2x10ml EDTA blood)

Breast cancer 1 (BRCA1) gene analysis2)

Breast cancer 2 (BRCA2) gene analysis2)

Checkpoint kinase 2 (CHEK2) polymorphism Ataxia-telangiectasia mutated gene (ATM) polymorphism

Butyrylcholinesterase deficiency (BCHE)

Cardiomyopathy2)

Cardiomyopathy, dilated, 1A (CMD1A) Cardiomyopathy, familial hypertrophic (CMH) Cardioencephalomyopathy, fatal infantile

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy (CADASIL) Charcot Marie Tooth, CMT #601097(Hereditary motor, and 159440, sensory neuropathy, HMSN)2) Please specify HMSN/CMT Type:

Chondrodysplasia, Grebe Type Chronic myeloid leukemia (CML)

BCR / ABL qual. BCR / ABL quant.2)

Cleidocranial dysplasia (CCD) Coagulation factor II (FII) genotyping

G20210A polymorphism Coagulation factor II (FII) gene analysis

Colorectal cancer, hereditary non- polyposis,Type 1 (HNPCC1)2)

COMT genotyping (V158M) Congenital bilateral aplasia of vas deferens (CBAVD) Craniosynostosis (FGFR-associated)

Apert syndrome Crouzon syndrome Jackson-Weiss syndrome Muenke syndrome Pfeiffer syndrome

Crigler-Najjar syndrome Type 1 Type 2

Crouzon syndrome Cystic fibrosis transmembrane conductance regulator (CFTR) Cytochrome P450 genotyping

CYP1A1 CYP1A2 CYP2D6 CYP2C9 CYP2C19

Denys-Drash syndrome Dihydropyrimidine dehydrogenase (DPYD) genotyping, 5‘-Fluorouracil toxicity Dysautonomia, familial (Neuropathy, hereditary sensory and autonomic, Type 3)2)

Dystonia Dystonia, progressive, with diurnal variation, DOPA-responsive dystonia Paroxymal nonkinesigenic dyskinesia 1, PNKD1 Torsion dystonia 1

Ehlers-Danlos syndrome, Type 7A/B Fabry disease (Alpha-Galactosidase A deficiency) Facioscapulohumeral muscular dystrophy 1a (FSHMD1A)2)

Factor V deficiency polymorphism

#200610

#100800

#201250

#151410

#201450

#175100

600807

#201910

#202010

#202110

#201810

#118450

#301500

#141800

#104300

#104760

#104311

#600759

#107741

#176300

#105200

#153450

#134820

#107680

#105400

#205100

#105830

#106180

#106210

#101200

#107730

#107741

#300382

#415000

#130650

#141900

#113100

#113705

#600185

#604373

#607585

#177400

#249100

#227650

#309550

#136680

#229300

#229600

#143500

#305900

#138350

#235200

#134660

#235200

#306700

#306900

#601373,601267,

600835

#143100

#107730

#107741

#606945

#260920

#146000

#266600

#123150

#147796,263399

#156550

#150220

#249700

#535000

#151100

#127300

#220400

#192500

#606945

#154700

#125850

#125851

#600496

#606392

#137920

#606394

#610508

#609812

#612225

#115200

#192600

#604377

#125310

304040,129010, 605725

#200700

#608232

#119600

#176930

#120435

#116790

#277180

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#123500

#123150

#602849

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#218800

#606785

#123500

#602421

#108330

#124060

#124030

#601130

#124020

#194080

#274270

#223900

#128230

#118800

#128100

#130060

#301500

#158900

#227400

Clinical question to answer:

Symptoms / clinical findings:

no

no

yes

yes

Family members affected

Parents consanguineous

Degree of relationship:

if yes, who is affected:

Results of former analyses:Please include, if possible, written original reports

Aristaless-related gene related disorders (ARX), X-linked2)

Fragile X syndrome (FMR1) Prader-Willi syndrome (PWS) RETT syndrome, (MECP2 gene analysis)2)

Tay-Sachs disease

9. Metabolic disorders Acyl-CoA dehydrogenase, medium- chain, deficiency of (MCAD) Alpha-Galactosidase A deficiency(Fabry disease) Butyrylcholinesterase deficiency (BCHE) Crigler-Najjar syndrome

Type 1 Type 2

Cystic fibrosis transmembrane conductance regulator (CFTR)

Fructose intolerance, hereditary (Aldolase B deficiency)

Gilbert syndrome (UGT1A1/TA polymorphism)

Glucose-6-phosphate dehydrogenase (G6PD)

Lactose intolerance (-13910T>C polymorphism)

Pancreatitis, hereditary (PCTT) Protease, serine, 1 (PRSS1) gene analysis Serine protease inhibitor, Kazal- Type, 1 (SPINK1) gene analysis

Protease inhibitor 1, PI, (Alpha-1-antitrypsin deficiency)

Surfactant, pulmonary-associated protein B (SFTPB)2)

Wilson disease

10. Mitochondropathies Leber optic atrophy2)

MELAS syndrome2)

MERRF (Myoclonic epilepsyassociated with ragged-red fibers)2)

NARP syndrome (ATP synthase 6,MTAPT6)2)

MELAS syndrome2)

MERRF (Myoclonic epilepsy associated with ragged-red fibers)2)

Metaphyseal chondrodysplasia, Schmid Type (MCDS)

MTHFR (C677T polymorphism) Muenke syndrome Multidrug resistance (MDR1, C3435T genotyping)

Multiple endocrine neoplasia Type 1 (MEN1)2)

Type 2 (MEN2) Muscular dystrophy

Becker Type Duchenne Type

Myotonic dystrophies2)

Dystrophia myotonica 1 (Steinert Disease)

Dystrophia myotonica 2 (Proximal Myotonic Myopathy, PROMM)

Nail-Patella syndrome (NPS) NARP syndrome (ATP synthase 6, MTAPT6)2)

NAT2 (Arylamine N-acetyltransferase2)

Neurofibromatosis Type 1 (NF1) Type 2 (NF2)2)

Noonan syndrome 1 (NS1) Obesity

Melanocortin 4 receptor (MC4R) gene analysis

Proopiomelanocortin (POMC) gene analysis

Spondyleopiphyseal dysplasia, congenital Stickler syndrome, Type 1 Surfactant, pulmonary-associated protein B (SFTPB)2)

Tay-Sachs disease Thanatophoric dysplasia #187600, Thiopurine-S-methyltransferase (TPMT) Thyroid Hormone Resistance (RTH) Tuberous sclerosis2)

TSC1 gene analysis TSC2 gene analysis

Tumor necrosis factor receptor- associated periodic syndrome (TRAPS)

UGT1A1 genotyping (TA-polymorphism, Irinotecan toxicity) Uniparental disomy (UPD)Chromosome:

VKORC1 genotyping Von Hippel-Lindau syndrome (VHL) Waardenburg syndrome

Type 1 and Type 3 #193500, Type 2

WAGR syndrome Wilms tumor 1 (WT1) Wilson disease Wiskott-Aldrich syndrome2)

Others:

Osteogenesis imperfecta, Type 1 Pancreatitis, hereditary (PCTT)

Protease, serine, 1 (PRSS1) gene analysis Serine protease inhibitor, Kazal-Type, 1 (SPINK1) gene analysis

Pfeiffer syndrome Plasminogen activator inhibitor 1 (PAI1) Prader-Willi syndrome (PWS) Primary lateral sclerosis, juvenile2)

Prostate cancer antigen 3 (PCA3)2)4)

Protease inhibitor 1, PI, (Alpha-1-antitrypsin deficiency) Prothrombin, G20210A polymorphism RETT syndrome (MECP2 gene analysis)2)

Riley-Day syndrome Sensorineural hearing loss non-syndromal

Connexin-26 (GJB2-gene) Connexin-30 (GJB6-gene) Connexin-30.3 (GJB4-gene) Connexin-31 (GJB3-gene) Connexin-32 (GJB1-gene)

SHOX deficiency Leri-Weill dyschondrosteosis Langer mesomelic dysplasia Short stature, with uncertain clinical signs

Sickle cell anemia Silver-Russell syndrome Spastic paralysis, infantile-onset ascending2)

Spinal muscular atrophy (SMA), #253300, Type 1-3 Spinocerebellar ataxia (SCA), #164400, 183090, Type 1, 2, 3, 5, 6, 7, 8, 600224, 183086, 164500, 10, 13, 14, 172) 603516, 605259, 605361,

Analyses in alphabetical order

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#223900

#121011

#604418

#605425

#603324

#304040

#127300

#249700

#603903

#607225

#180860

253550,253400

109150, 608768,607136

OMIM OMIM

#183900

#108300

#178640

#272800

487601

#187680

#188570

#191100

#142680

#143500

#608547

#193300

148820

#193510

#194072

#194070

#277900

#301000

OMIM

4. Hematology / Hemostasiology (see also 14) Alpha-thalassemia1)2)

Major Minor

Beta-thalassemia1)2)

Major Minor

Coagulation factor II (FII) G20210A polymorphism Coagulation factor II (FII) gene anaylsis

Factor V deficiency polymorphism Fanconi anemia (FA)2)

Hemochromatosis (HFE) Hemophilia A2)

Hemophilia B2)

MTHFR (C677T polymorphism) Plasminogen activator inhibitor 1 (PAI1) Prothrombin, G20210A polymorphism Thyroid Hormone Resistance (RTH) Wiskott-Aldrich syndrome2)

5. Hereditary periodic fever Familial mediterranean fever (FMF) Hyper-IgD syndrome Tumor necrosis factor receptorassociated periodic syndrome (TRAPS)

6. Kinship testing / Paternity testing Simple descendancy expertise2)

Complex descendancy expertise2)

7. Lipometabolism Hypercholesterolemia, familial

Apolipoprotein B (APOB) genotyping Apolipoprotein E (APOE) genotyping Low density lipoprotein receptor (LDLR gene analysis)

Obesity Melanocortin 4 receptor (MC4R) gene analysis Proopiomelanocortin (POMC gene analysis

8. Mental retardation Angelman syndrome (AS)

Methylation analysis, SNRPN gene region UBE3A gene analysis

1. Cardiology Angiotensin 1-converting enzyme(ACE), insertion /deletion polymorphismCardiomyopathy2)

Cardiomyopathy, dilated, 1A (CMD1A)

Cardiomyopathy, familial hypertrophic (CMH)

Cardioencephalomyopathy, fatal infantile

LEOPARD syndrome Long QT syndrome2)

Jervell and Lange-Nielsen syndrome (JLNS1)

Romano-Ward syndrome (RWS)

2. Endocrinology / Diabetology Adrenal hyperplasia, congenital

21-Hydroxylase deficiency11-Beta-hydroxylase deficiency2)

17-Alpha-hydroxylase deficiency2)

3-Beta-hydroxysteroid dehydro- genase deficiency2)

Maturity Onset Diabetes of the Young Type 1, MODY1 (HNF4 gene analysis) Type 2, MODY2 (GCK gene analysis) Type 3, MODY3 (HNF1 gene analysis) Type 4, MODY4 (PDX1 gene analysis) Type 5, MODY5 (HNF1 gene analysis) Type 6, MODY6 (NEUROD1 gene analysis) Type 7, MODY7 (KLF11 gene analysis) Type 8, MODY8 (CEL gene analysis) Type 9, MODY9 (PAX4 gene analysis)

Multiple endocrine neoplasia Type 1 (MEN1)2)

Type 2 (MEN2) Thyroid Hormone Resistance (RTH)

3. Fertility Azoospermia, nonobstructive (Azoospermia factor regions, included, Y-linked)2)

Congenital bilateral aplasia of vas deferens (CBAVD)

Diseases, order according their medical speciality

#106180

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#192500

#201910

#202010

#202110

#201810

#125850

#125851

#600496

#606392

#137920

#606394

#610508

#609812

#612225

#131100

#171400

#188570

#415000

#277180

#300382

#309550

#176270

#312750

#272800

#201450

#301500

#177400

#218800

#606785

#602421

#229600

#143500

#305900

#150220

#167800

#107400

#178640

#277900

#535000

#540000

#545000

#516060

OMIM OMIM OMIM

#141800

#141900

#176930

#227400

#227650

#235200

#306700

#306900

#607093

#173360

#176930

#188570

#301000

#249100

#260920

#142680

#107730

#107741

#606945

#155541

#176830

#105830

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#540000

#545000

#156500

#607093

#602849

#171050

#131100

#171400

#300376

#310200

#160900

#602668

#161200

#516060

#243400

#162200

#101000

#163950

#155541

#176830

16. Sceletal dysplasia /connective tissue disorders

Achondrogenesis, Type 2 (ACG2) Achondroplasia (ACH) Acromesomelic dysplasia,Hunter-Thompson Type Alagille syndrome2)

Brachydactyly, Type C (BDC) Chondrodysplasia, Grebe Type Cleidocranial dysplasia (CCD) Craniosynostosis (FGFR-associated)

Apert syndrome Crouzon syndrome Jackson-Weiss syndrome Muenke syndrome Pfeiffer syndrome

Ehlers-Danlos syndrome, Type 7A / B Hypochondroplasia (HCH) Kniest dysplasia Langer mesomelic dysplasia Leri-Weill dyschondrosteosis (LWD) Marfan syndrome2)

Metaphyseal chondrodysplasia, Schmid Type (MCDS)

Nail-Patella syndrome (NPS) Osteogenesis imperfecta, Type 1 SHOX-Deficiency

Leri-Weill dyschondrosteosis Langer mesomelic dysplasia Short stature, with uncertain clinical signs

Silver-Russell syndrome Spondyloepiphyseal dysplasia, congenital Stickler syndrome, Type 1 Thanatophoric dysplasia #187600,

17. Syndromic dysplasias, others Noonan syndrome 1 (NS1) Waardenburg syndrome

Type 1 and Type 3 #193500, Type 2

Others:

13. Ophthalmology Aniridia Waardenburg syndrome

Type 1 and Type 3 #193500, ype 2

14. Oncology / Hematology /tumor associated diseases

Acute lymphatic leukemia (BCR/ABL) Adenomatous polyposis of the colon (APC)2)

Beckwith-Wiedemann syndrome (BWS) Breast cancer/ Ovarian cancer (2x10ml EDTA blood)

Breast cancer 1 (BRCA1) gene analysis2)

Breast cancer 2 (BRCA2) gene analysis2)

Checkpoint kinase (CHEK2) polymorphism Ataxia-telangiectasia mutated gene (ATM) polymorphism

Chronic myeloid leukemia (CML) BCR / ABL qual. BCR / ABL quant.2)

Colorectal cancer, hereditary non- polyposis Type 1 (HNPCC1)2)

Denys-Drash syndrome Frasier syndrome Janus kinase 2 (JAK2) genotyping, V617F polymorphism Multiple endocrine neoplasia

Type 1 (MEN1)2)

Type 2 (MEN2) Neurofibromatosis

Type 1 (NF1) Type 2 (NF2)2)

Prostate cancer antigen 3 (PCA3)2)4)

Tuberous sclerosis2)

TSC1 gene analysis TSC2 gene analysis

Von Hippel-Lindau syndrome (VHL) WAGR syndrome Wilms tumor 1 (WT1)

15. Pharmacogenetics ADRB2-Genotyping #109690, (R16G, Q27E, T164I) Angiotensin 1-converting enzyme (ACE), insertion/deletion polymorphism COMT genotyping (V158M) Cytochrome P450 genotyping

CYP1A1 CYP1A2 CYP2D6 CYP2C9 CYP2C19

Dihydropyrimidine dehydrogenase (DPYD) genotyping, 5`-Fluorouracil toxicity Glutathione-S-transferase genotyping

Glutathione S-transferase, Mu-1 (GSTM1) Glutathione S-transferase, Pi (GSTP1) Glutathione S-transferase, Theta-1 (GSTT1)

Multidrug resistance (MDR1, C3435t genotyping) NAT2 (Arylamine N-acetyltransferase2)

Thiopurine S-methyltransferase (TPMT) UGT1A1 genotyping (TA-polymorphism, Irinotecan toxicity) VKORC1 genotyping

Diseases, order according their medical speciality

#106210

148820

#193510

#151410

#175100

#130650

#113705

#600185

# 604373

# 607585

# 608232

# 120435

# 194080

# 136680

#147796,263399

#131100

#171400

#162200

#101000

#604845

#191100

#193300

#194072

#194070

600807

#106180

#116790

#108330

#124060

#124030

#601130

#124020

#274270

#138350

#235200

#134660

#171050

#243400

#187680

#143500

#608547

#200610

#100800

#201250

#118450

#113100

#200700

#119600

#101200

#123500

#123150

#602849

#101600

#130060

#146000

#156550

#249700

#127300

#154700

#156500

#161200

#166200

#127300

#249700

#180860

#183900

#108300

487601

#163950

148820

#193510

OMIM OMIM OMIM

Analysis only possible, if BCR / ABL breakpoint is provided for the sample.Please use PAX gene RNA blood tubes available from bio.logis International Support.

1) If available please attach copies of the results from Hemoglobin electro-phoresis and from a Hemogram of the patient.

2) Analyses performed in cooperation with reference laboratories.3) Please send heparin blood. Ship the sample immediately after blood

drawing, preferably at the beginning of a week.4) Please send urine. Special transport tubes available from bio.logis.

Contact bio.logis client service: T +49 69 - 530 84 37- 0 F +49 69 - 530 84 37- 11 info@biologis.comwww.biologis.com

11. Molecular genetic diagnostics, others Human immunodeficiency virus (HIV) Type 1, susceptibility to (CCR5, 32BP, CCR2 V64I, SDF1 3´A polymorphism) Inflammatory bowel disease 1, IBD1 (Crohn disease)

Sensorineural hearing loss non-syndrome Connexin-26 (GJB2-gene) Connexin-30 (GJB6-gene) Connexin-30.3 (GJB4-gene) Connexin-31 (GJB3-gene) Connexin-32 (GJB1-gene)

Uniparental disomy (UPD) Chromosome:

12. Neurology / muscel disorders Amyloid Polyneuropathy, familial2)

Amyloidosis, familial visceral2)

LYZ gene analysis FGA gene analysis APOA1 gene anaylsis

Alzheimer disease Type 1, APP gene analysis2)

Type 2, PSEN1 gene analysis2)

Type 3, PSEN2 gene analysis2)

Apolipoprotein E Amyotrophic lateral sclerosis2)

ALS1, SOD1 gene analysis ALS2, Alsin gene analysis

Charcot Marie Tooth, CMT #604097, (Hereditary motor and 159440, 129010, sensory neuropathy, HMSN)2) Please specify HMSN / CMT Type:

Dysautonomia, familial (Neuropathy, hereditary sensory and autonomic, Type 3)2)

Dystonia Dystonia, progressive, with diurnal variation, DOPA-responsive dystonia Paroxymal nonkinesigenic dyskinesia 1, PNKD1

Torsion dystonia 1 Fascioscapulohumeral muscular dystrophy 1a (FSHMD1A)2)

Friedreich ataxia 1 (FRDA)2)

Huntington disease (HD) (2 x 5 ml EDTA blood)2)

Muscular dystrophy Becker Type Duchenne Type

Myotonic dystrophies2)

Dystrophia myotonica 1 (Steinert Disease)

Dystrophia myotonica 2 (Proximal Myotonic Myopathy, PROMM)

Primary lateral sclerosis, juvenile2)

RETT syndrome, (MECP2 gene anaylsis)2)

Riley-Day syndrome Spastic paralysis, infantile-onset ascending2)

Spinal muscular atrophy (SMA), Type 1-3 Spinocerebellar ataxia (SCA), #164400, 183090, Type 1, 2, 3, 5, 6, 7, 8, 600224, 183086, 164500, 10, 13, 14, 172) 603516, 605259, 605361,

Tay-Sachs disease Wilson disease

#601373,601267, 600835

#266600

#121011

#604418

#605425

#603324

#304040

#176300

#105200

#153450

#134820

#107680

#104300

#104760

#104311

#600759

#107741

#105400

#205100

304040,605725

#223900

#128230

#118800

#128100

#158900

#229300

#143100

#300376

#310200

#160900

#602668

#606353

#312750

#223900

#607225

#253300,253550, 253400

109150,608768,607136

#272800

#277900

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