TABLE 4.

Lab and imaging test checklist (ordered by managing medical provider, with referral to specialists as required based on findings)

	At diagnosis	Approximate interval (years)	As required based on Hx/PE/routine findings	Abnormal test results reflect involvement
			As required based on Hx/PE/routine findings	Renal	Liver	Resp	Retinal	Other
Blood/urine tests
Molecular genetic diagnosis	X
CBC	X	1–2	X	anemia	Hypersplenism (↓ing plts)
Serum electrolytes	X	1–2	X	CKD		Abnormal respiratory control, obstructive apnea, restrictive lung disease
Capillary blood gas			X			Abnormal respiratory control, obstructive apnea restrictive lung disease
creatinine (+cystatin C when available)	X	1–2	X	CKD
Ca, Ph, PTH	X		X	CKD
Urine osmolality	X	1–2	X	CKD
Imaging tests
Abdominal USa		2–3
Kidney	X	Xb	X	Increased echogenicity, loss of corticomedullary differentiation, microcysts, macrocysts, urological malformations
Liver	X		X		Increased echogenicity
Spleen (size)a	X		X		Increasing spleen size
MRI	X		X					Dx confirmation, new neurological symptoms
Head CT/US			X					Hydrocephalus
Chest X-ray			X			Obstructive apnea/aspiration/pulmonary hypertension		Skeletal dysplasia
Specialized tests (requiring referral to specialist)
Comprehensive eye exam	X	1–2	X				Retinal dystrophy, coloboma, strabismus, refractive error, amblyopia
OCT/ERG			X				Retinal dystrophy
Bone densitometry			X	CKD
Upper GI endoscopy			X		Esophageal or gastric varices
EEG			X					Seizures
Video fluoroscopic swallow study			X					Dysphagia
Standardized psychological assessment for school planning	X	3	X

^aNote that typically, evaluation of spleen size needs to be specifically requested as part of an abdominal ultrasound that will also include evaluation of the liver and kidneys.

^bDuring adolescence.

Abbreviations: ↑ing, increasing over time; ↓ing, decreasing over time; BUN, blood urea nitrogen; Ca, calcium; CBC, complete blood count; CKD, chronic kidney disease; CT, computed tomography; ERG, ElectroRetinoGram; GGT, gamma glutamyltranspeptidase; GI, gastrointestinal; MRI, magnetic resonance imaging; OCT, optical coherence tomography; Ph, phosphorus; plts, platelets; PTH, parathyroid hormone; s/s, signs and symptoms; Std., standard; US, ultrasound.