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Congenital Malformations
Joubert/Meckel Gruber Syndrome Panel
Kabuki Syndrome Panel
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Macrocephaly Panel
MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.
Meckel-Gruber Syndrome Panel
Microcephaly Panel
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
Nephronophthisis Panel
Oculodentodigital Dysplasia Testing (GJA1)
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