Test Directory

Arthrogryposis, distal and other limb contractures (15 Genes)

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

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

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

Branchiootic and branchiootorenal syndromes (3 Genes)

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

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

Canavan Disease and its differential diagnosis (9 Genes)

Cantú & Berardinelli‑Seip syndromes

Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome - and its differential diagnosis (7 Genes)

Cerebrotendinous xanthomatosis and its differential diagnosis (9 Genes)

Cherubism and its differential diagnosis (6 Genes)

Chondrodysplasia punctata and its differential diagnosis, excl. Zellweger syndrome (17 Genes)

Coffin-Lowry syndrome and its differential diagnosis (6 Genes)

Coffin-Siris syndrome (10 Genes)

Congenital disorders of glycosylation (50 Genes)

Congenital disorders of glycosylation, experimental (78 Genes)

Congenital fibrosis of the extraocular muscles and its differential diagnosis (13 Genes)

Dyserythropoietic Anaemia, Congenital (8 Genes)

This next‑generation sequencing panel targets genes associated with congenital dyserythropoietic anaemias (CDAs), a group of rare inherited disorders characterized by ineffective erythropoiesis and abnormal red blood cell morphology.