NGS analysis - Lissencephaly

ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, CEP85L, CRADD, DCX, DYNC1H1, FKRP, FKTN, ISPD, KATNB1, KIAA1109, KIF2A, KIF5C, LAMB1, LARGE1, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RTTN, TMEM5 (RXYLT1), TMTC3, TUBA1A, TUBA8, TUBB (TUBB5), TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE

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GENE / VARIANT / LOCUS

SPECIALIZATIONS

Neurology / neuropediatrics

METHODOLOGY

NGS

TAT (DAYS)

365 calendar days

OMIM CODE (GENE/LOCUS)

OMIM CODE (FENOTYPE)

RefSNP ID

ACCREDITATION

SAMPLE REQUIREMENTS

Sample type	Volume/Concentration¹	Container	Transport temperature	Sample viability (days/hours)²
Peripheral blood	≥ 3 ml	K3/K2 EDTA	Room temp.	5
Peripheral blood	1 ml	K3/K2 EDTA - newborn	Room temp.	5

¹ If it is not possible to collect the minimum volume for the test, please contact Unilabs Genetics

² Maximum shipping time to ensure sample quality