Test Directory

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Showing 20 of 123 tests (filtered)

PNL012

Aortic aneurysm, familial thoracic (18 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL015

Arthrogryposis, distal and other limb contractures (15 Genes)

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PNL016

Ashkenazi (18 Gene)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL017

Ataxia-oculomotor apraxia (5 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL019

Autoinflammatory immunodeficiencies (18 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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Genes: 18 genes

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PNL020

Baller-Gerold syndrome and its differential diagnosis (5 genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL023

Basal cell nevus syndrome [Gorlin or Gorlin-Goltz syndrome] (3 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL024

Bethlem myopathy (4 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL025

Bohring-Opitz syndrome and its differntial diagnosis (10 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL027

Branchiootic and branchiootorenal syndromes (3 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL030

Brugada syndrome (9 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL031

Burn-McKeown syndrome and Treacher-Collins syndrome (4 Genes)

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PNL032

Camurati-Engelman disease and its differential diagnosis (6 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL033

Canavan Disease and its differential diagnosis (9 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL034

CantÃº syndrome, Berardinelli-Seip syndrome and their differential diagnosis [incl. mucopolysacchcaridosis I, II, IVA, mucolipidosis III, and alpha-mannosidosis and Beckwith-Wiedemann syndrome] (11 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL038

Cataract, isolated, classic (39 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL039

Cataract, isolated, extended (35 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL040

Catecholaminergic polymorphic ventricular tachycardia (3 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL041

Central core disease and its differential diagnosis (6 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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PNL042

Central hypoventilation syndrome (12 Genes)

Sample: 3 ml peripheral blood in EDTA (purple/pink top) tube

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