Movement Disorders + Hypotonia Panel

Movement Disorders + Hypotonia Panel is an 81-gene focused panel aimed at identifying the underlying genetic cause of movement disorder and congenital hypotonia.

This test aims to identify genetic etiologies in patients with a clinical history involving movement disorders and hypotonia. This includes disorders such as aromatic L-amino acid decarboxylase (AADC) deficiency, several types of dystonias and dyskinesias, and other clinically overlapping conditions. Genes included are associated with one or more key clinical symptoms including congenital hypotonia and involuntary movement disorder.

Genes analyzed

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Movement Disorders + Hypotonia Panel

14-21 days

81 Genes

Movement Disorders + Hypotonia Panel

81 Genes

AARS

ABAT

ADCY5

ALDH5A1

ALDH7A1

AMT

AP1S2

ARHGEF9

ATP1A2

ATP1A3

ATP7B

BCKDHA

BCKDHB

COASY

DBT

DDC

DDX3X

DLD

DNAJC12

DNM1

EIF2AK2

ELP2

GAMT

GCDH

GCH1

GLDC

GLRA1

GLRB

GNAO1

GNB1

HPRT1

KCNB1

KCNMA1

KMT2B

MECR

MYBPC1

NBEA

NGLY1

NTNG2

PANK2

PCCA

PCCB

PDE10A

PGAP1

PLA2G6

PNKD

PNPO

PNPT1

PRRT2

PTS

QDPR

RHOBTB2

SCN2A

SCN8A

SERAC1

SGCE

SLC16A2

SLC17A5

SLC18A2

SLC2A1

SLC30A10

SLC39A14

SLC6A3

SLC6A5

SLC6A8

SLC9A6

SPR

SYT1

TET3

TNR

TOR1A

TUBB4A

UBTF

VAC14

VAMP2

VPS13D

WARS2

WDR45

WDR73

YIF1B

Patients with movement disorders and congenital hypotonia often undergo a diagnostic odyssey. For patients and families, this journey to an accurate diagnosis can be long and costly. Ambry Genetics can help facilitate early diagnosis which can help optimize disease management.