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1. ID: 2157
2. Xq28 
3. AHF; F8B; F8C; HEMA; FVIII; DXS1253E 
4. This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood 
coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, 
converts factor X to the activated form Xa. 
5. Hereditary factor VIII deficiency disease.
6.
6.1 The F8 gene encodes coagulation factor VIII, a large plasma glycoprotein that 
functions in the blood coagulation cascade as a cofactor for the factor IXa (300746)-
dependent activation of factor X (F10; 613872). Factor VIII is activated 
proteolytically by a variety of coagulation enzymes, including thrombin 
(F2; 176930). Factor VIII is tightly associated in the blood with von Willebrand 
factor (VWF; 613160), which serves as a protective carrier protein for factor VIII 
(summary by Toole et al., 1984; review by Hoyer, 1994). 
6.2 Multiplex Ligation-dependent Probe Amplification (MLPA) , Bi-directional Sanger Sequence 
Analysis 
6.3 doença recessiva ligada ao x
7. Diagnostics Division
A.
CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
Director: 
Ashwin Dalal, MD, Lab Director
HYDERABAD, Andhra Pradesh, India
Allele Diagnostics
Director: 
Beth Torchia, PhD, ABMG, FACMG, DABMG, Lab Director
Staff: 
Melanie Meyer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor, Annie 
Morton, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Spokane, Washington, United States
DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA.
Director: 
Euclides Matheucci Jr, PhD, Lab Director
Staff: 
Adriana Medaglia, PhD, Bruno Rocha, MS, Nathalia Rodrigues, PhD
São Carlos, Sao Paulo, Brazil
B. Clinical Testing/Confirmation of Mutations Identified Previously
•Confirmation of research findings
•Prenatal testing
•Genetic counseling
•Maternal cell contamination study (MCC)
•Mutation Confirmation
•Result interpretation
This lab has no services.
Custom Sequence Analysis
•Carrier testing
•Identity Testing
•Mutation Confirmation
•Result interpretation
•Whole Exome Sequencing, comments
•Clinical exome, comments
•Sequencing of any human gene or panel os genes
8. DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA.
Director: 
Euclides Matheucci Jr, PhD, Lab Director
Staff: 
Adriana Medaglia, PhD, Bruno Rocha, MS, Nathalia Rodrigues, PhD
São Carlos, Sao Paulo, Brazil
somente esse