GOLD STANDARD TEST

Question 1

Glanzmann Thrombasthenia

Answer 1

Light transmission Aggregometry (LTA)

Question 2

Bernard-Soulier Syndrome

Answer 2

Flow cytometry for GPIb
deficiency

Question 3

Montreal Platelet Syndrome

Answer 3

Light transmission Aggregometry (LTA)

Question 4

Gray Platelet Syndrome

Answer 4

Electron microscopy
showing absence of alpha
granules

Question 5

May-Hegglin Anomaly

Answer 5

Peripheral smear and genetic
testing for MYH9 mutation

Question 6

Fechtner Syndrome

Answer 6

Genetic testing for MYH9
mutations

Question 7

Sebastian Syndrome

Answer 7

MHY9 gene genetic sequencing

Question 8

Epstein Syndrome

Answer 8

Genetic testing for MYH9
mutation

Question 9

Mediterranean
Macrothrombocytopenia

Answer 9

Flow Cytometry

Question 10

Hermansky-Pudlak Syndrome

Answer 10

Electron microscopy (no
dense granules)

Question 11

Chediak-Higashi Syndrome

Answer 11

genetic testing

Question 12

Wiskott-Aldrich Syndrome

Answer 12

Genetic testing for WAS
gene mutation

Question 13

Thromboxane Pathway
Disorder

Answer 13

Light transmission Aggregometry (LTA)

Question 14

Scott Syndrome

Answer 14

Annexin V binding assay

Question 15

Stormorken Syndrome

Answer 15

STIM1 gene testing

Question 16

Myeloproliferative Neoplasm

Answer 16

CBC, Bone marrow biopsy, Jak 2 Mutation

Question 17

Walderstrom
Macroglobulinemia

Answer 17

Serum electrophoresis, bone
marrow biopsy

Question 18

Hereditary Afibrinogenemia

Answer 18

Fibrinogen assay

Question 19

Hereditary Hemorrhagic
Telangiectasia

Answer 19

Curaçao criteria, genetic test

Question 20

Hemangioma
Thrombocytopenia Syndrome

Answer 20

D-Dimer